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566 peer-reviewed articles • 35,929 peer-reviewed citations • Sorted by year • Download PDF (PDF by citations)
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1DICER1 associated cervical embryonal rhabdomyosarcoma in a 59-year-old woman0.41Citations (PDF)
2Ineffectiveness of Sotatercept Therapy in a Patient With Heritable Pulmonary Arterial Hypertension Associated With a Previously Unreported Missense Variant in GDF2, the Gene for Bone Morphogenic Protein-9
Chest, 2025, 167, e37-e39
0.84Citations (PDF)
3The Association Between Endometriosis And Ovarian Cancer Risk In Women With A Pathogenic Variant In BRCA1 Or BRCA2: A Case-Control Study2.20Citations (PDF)
4Chemotherapy receipt in affected BRCA1/2 and PALB2 carriers with operable breast cancer: the impact of early detection and pre-diagnostic awareness on clinical outcomes and treatment1.42Citations (PDF)
5Inherited Susceptibility to Cancer: Past, Present and Future
Annals of Human Genetics, 2025, 89, 354-365
1.010Citations (PDF)
6Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non–small Cell Lung Cancer2.36Citations (PDF)
7Teratoma‐associated and so‐called pure Wilms tumour of the ovary represent two separate tumour types with distinct molecular features
Histopathology, 2024, 84, 683-696
2.66Citations (PDF)
8Counselling Framework for Germline BRCA1/2 and PALB2 Carriers Considering Risk-Reducing Mastectomy
Current Oncology, 2024, 31, 350-365
2.07Citations (PDF)
9SMARCB1 (INI1) Deficient Tumours of the Uterine Cervix: Report of Two Cases, Including One Associated With an NTRK Fusion1.16Citations (PDF)
10Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy
BJC Reports, 2024, 2,
1.40Citations (PDF)
11A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency
Clinical Chemistry, 2024, 70, 737-746
0.65Citations (PDF)
12Estrogen Receptor Expression in DICER1-related Lesions is Associated With the Presence of Cystic Components2.33Citations (PDF)
13Timing of genetic testing in BRCA1/2 and PALB2-Associated breast cancer: Preoperative result disclosure increases uptake of risk-reducing mastectomy and reduces unnecessary exposure to radiotherapy0.915Citations (PDF)
14Intrathyroid Thymic Tissue in Children with DICER1 Syndrome
Radiology, 2024, 311,
6.70Citations (PDF)
15Evoked piloerection sign/pseudo-Darier sign: A clinical clue to the diagnosis of cutaneous leiomyomas1.51Citations (PDF)
16Incidence of peritoneal cancer after oophorectomy among BRCA1 and BRCA2 mutation carriers3.29Citations (PDF)
17Probing the relevance of BRCA1 and BRCA2 germline pathogenic variants beyond breast and ovarian cancer3.24Citations (PDF)
18Reply to Letter by Cyrta et al, Entitled “Additional Considerations on Aberrant BRG1 (SMARCA4) Expression in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)”2.32Citations (PDF)
19This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency0.80Citations (PDF)
20miRNA biogenesis and inherited disorders: clinico-molecular insights
Trends in Genetics, 2023, 39, 401-414
5.559Citations (PDF)
21Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases1.713Citations (PDF)
22Genomic characterization of DICER1-associated neoplasms uncovers molecular classes10.860Citations (PDF)
23DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility
NAR Cancer, 2023, 5,
2.54Citations (PDF)
24Unusual Aspects of Small Cell Carcinoma of the Ovary of Hypercalcaemic Type2.314Citations (PDF)
25Germline EGFR c.2527G > A (p.V843I) variant and familial lung cancer
Lung Cancer, 2023, 181, 107247
1.85Citations (PDF)
26Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes
Journal of Medical Genetics, 2023, 60, 1218-1223
2.25Citations (PDF)
27A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion‐positive rhabdomyosarcoma0.92Citations (PDF)
28Disturbed sleep is associated with reduced verbal episodic memory and entorhinal cortex volume in younger middle-aged women with risk-reducing early ovarian removal2.89Citations (PDF)
29“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening2.15Citations (PDF)
30Functional and phenotypic consequences of an unusual inversion in MSH2
Familial Cancer, 2023, 23, 1-7
1.10Citations (PDF)
31Awareness and Candidacy for Endocrine Prevention and Risk Reducing Mastectomy in Unaffected High-Risk Women Referred for Breast Cancer Risk Assessment
Annals of Surgical Oncology, 2023, 31, 981-987
1.72Citations (PDF)
32Physical Activity During Adolescence and Early-adulthood and Ovarian Cancer Among Women with a BRCA1 or BRCA2 Mutation
Cancer Research Communications, 2023, 3, 2420-2429
2.11Citations (PDF)
33Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Journal of Medical Genetics, 2022, 59, 318-327
2.2120Citations (PDF)
34Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Journal of Medical Genetics, 2022, 59, 571-578
2.235Citations (PDF)
35An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER11.18Citations (PDF)
36Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
Gynecologic Oncology, 2022, 164, 514-521
2.326Citations (PDF)
37The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT
Clinical Genetics, 2022, 101, 317-323
1.55Citations (PDF)
38PRAME protein expression in DICER1‐related tumours2.113Citations (PDF)
39Neuroectodermal elements are part of the morphological spectrum of DICER1-associated neoplasms
Human Pathology, 2022, 123, 46-58
1.718Citations (PDF)
40A decade of RAD51C and RAD51D germline variants in cancer
Human Mutation, 2022, 43, 285-298
1.021Citations (PDF)
41Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants
Genes, 2022, 13, 697
1.87Citations (PDF)
42Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal0.68Citations (PDF)
43The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population
Cancers, 2022, 14, 2251
2.710Citations (PDF)
44Intra-Tumoral CD8+ T-Cell Infiltration and PD-L1 Positivity in Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma1.715Citations (PDF)
45Scene memory and hippocampal volume in middle-aged women with early hormone loss
Neurobiology of Aging, 2022, 117, 97-106
2.430Citations (PDF)
46Patient Experience with a Gynecologic Oncology-Initiated Genetic Testing Model for Women with Tubo-Ovarian Cancer
Current Oncology, 2022, 29, 3565-3575
2.03Citations (PDF)
47Incidence of Occult Breast Cancer in Carriers of BRCA1/2 or Other High-Penetrance Pathogenic Variants Undergoing Prophylactic Mastectomy: When is Sentinel Lymph Node Biopsy Indicated?
Annals of Surgical Oncology, 2022, 29, 6660-6668
1.720Citations (PDF)
48Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions4.021Citations (PDF)
49The Great Majority of Homologous Recombination Repair-Deficient Tumors Are Accounted for by Established Causes1.610Citations (PDF)
50Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention
Current Oncology, 2022, 29, 4632-4646
2.07Citations (PDF)
51Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer
Cancer Research, 2022, 82, 3499-3515
2.610Citations (PDF)
52Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients1.76Citations (PDF)
53Ultrasound features of multinodular goiter in DICER1 syndrome
Scientific Reports, 2022, 12,
2.710Citations (PDF)
54PRSS2 remodels the tumor microenvironment via repression of Tsp1 to stimulate tumor growth and progression10.825Citations (PDF)
55DICER1‐associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing
Genes Chromosomes and Cancer, 2021, 60, 217-233
1.765Citations (PDF)
56Reprogramming of Nucleotide Metabolism Mediates Synergy between Epigenetic Therapy and MAP Kinase Inhibition1.212Citations (PDF)
57The genetic landscape of choroid plexus tumors in children and adults
Neuro-Oncology, 2021, 23, 650-660
0.953Citations (PDF)
58Clinical Outcomes and Complications of Pituitary Blastoma3.141Citations (PDF)
59Endometrial Stem/Progenitor cell (ES/PC) Marker Expression Profile in Adenosarcoma and Endometrial Stromal Sarcoma1.21Citations (PDF)
60Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer
Scientific Reports, 2021, 11,
2.79Citations (PDF)
61Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology3.150Citations (PDF)
62Mismatch Repair Universal Screening of Endometrial Cancers (MUSE) in a Canadian Cohort
Current Oncology, 2021, 28, 509-522
2.012Citations (PDF)
63Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers1.810Citations (PDF)
64BRCA1/2 and Endometrial Cancer Risk: Implications for Management3.213Citations (PDF)
65Achieving clinical success with BET inhibitors as anti-cancer agents
British Journal of Cancer, 2021, 124, 1478-1490
4.1336Citations (PDF)
66Clinical practice guidelines for BRCA1 and BRCA2 genetic testing
European Journal of Cancer, 2021, 146, 30-47
2.8152Citations (PDF)
67Molecular characterization of DICER1-mutated pituitary blastoma
Acta Neuropathologica, 2021, 141, 929-944
5.832Citations (PDF)
68Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
Genetics in Medicine, 2021, 23, 1779-1782
3.38Citations (PDF)
69DICER1-associated sarcomas at different sites exhibit morphological overlap arguing for a unified nomenclature1.915Citations (PDF)
70Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, 2021, 23, 1416-1423
3.375Citations (PDF)
71Embryonal rhabdomyosarcoma of the uterine corpus: a clinicopathological and molecular analysis of 21 cases highlighting a frequent association with DICER1 mutations
Modern Pathology, 2021, 34, 1750-1762
3.843Citations (PDF)
72Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant0.88Citations (PDF)
73An evaluation of memory and attention in BRCA mutation carriers using an online cognitive assessment tool
Cancer, 2021, 127, 3183-3193
2.73Citations (PDF)
74Li-Fraumeni Syndrome in the Cancer Genomics Era3.26Citations (PDF)
75A full molecular picture of F8 intron 1 inversion created with optical genome mapping
Haemophilia, 2021, 27,
1.37Citations (PDF)
76Letter to the Editor: Prevalence of WWP1 Gene Mutations in Patients with Thyroid Nodules
Thyroid, 2021, 31, 1147-1148
3.01Citations (PDF)
77Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families4.77Citations (PDF)
78Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers0.615Citations (PDF)
79SMARCA4/2 loss inhibits chemotherapy-induced apoptosis by restricting IP3R3-mediated Ca2+ flux to mitochondria10.873Citations (PDF)
80Circulating tumor DNA is readily detectable among Ghanaian breast cancer patients supporting non-invasive cancer genomic studies in Africa4.99Citations (PDF)
81A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing6.611Citations (PDF)
82Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study
Cancer Genetics, 2021, 258-259, 1-6
1.85Citations (PDF)
83The Value of DICER1 Mutation Analysis in “Subtle” Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix1.121Citations (PDF)
84Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes
JAMA Oncology, 2021, 7, 1806
10.956Citations (PDF)
85Companion Tumor Sequencing to Assess the Clinical Significance of Germline Sequencing in Children With Cancer
JAMA Network Open, 2021, 4, e2135135
5.212Citations (PDF)
86Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome
European Thyroid Journal, 2021, 10, 257-261
0.82Citations (PDF)
87A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Genome Medicine, 2021, 13,
5.919Citations (PDF)
88An eHealth decision‐support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor
International Journal of Cancer, 2020, 146, 1010-1017
2.829Citations (PDF)
89Macrofollicular Variant of Follicular Thyroid Carcinoma: A Rare Underappreciated Pitfall in the Diagnosis of Thyroid Carcinoma
Thyroid, 2020, 30, 72-80
3.038Citations (PDF)
90Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, 2020, 52, 56-73
14.1171Citations (PDF)
91Cancer Risks Associated With GermlinePALB2Pathogenic Variants: An International Study of 524 Families
Journal of Clinical Oncology, 2020, 38, 674-685
12.4429Citations (PDF)
92Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers?
Menopause, 2020, 27, 156-161
1.98Citations (PDF)
93Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma
Modern Pathology, 2020, 33, 1207-1219
3.867Citations (PDF)
94Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation
Gynecologic Oncology, 2020, 159, 820-826
2.319Citations (PDF)
95Etiologic Index — A Case-Only Measure of BRCA1/2 –Associated Cancer Risk26.421Citations (PDF)
96Bilateral Tumors — Inherited or Acquired?26.48Citations (PDF)
97BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral2.226Citations (PDF)
98Evaluation of molecular analysis in challenging ovarian sex cord-stromal tumours: a review of 50 cases
Pathology, 2020, 52, 686-693
1.420Citations (PDF)
99A Preclinical Trial and Molecularly Annotated Patient Cohort Identify Predictive Biomarkers in Homologous Recombination–deficient Pancreatic Cancer
Clinical Cancer Research, 2020, 26, 5462-5476
4.528Citations (PDF)
100Olaparib for Metastatic Castration-Resistant Prostate Cancer26.419Citations (PDF)
101Long-term outcomes following a diagnosis of ovarian cancer at the time of preventive oophorectomy among BRCA1 and BRCA2 mutation carriers2.25Citations (PDF)
102DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1‐associated sarcoma2.117Citations (PDF)
103The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer
BMC Cancer, 2020, 20,
2.117Citations (PDF)
104Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations—is the term “thyroblastoma” more appropriate?1.978Citations (PDF)
105A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome?0.96Citations (PDF)
106SMARCB1 loss induces druggable cyclin D1 deficiency via upregulation of MIR17HG in atypical teratoid rhabdoid tumors
Journal of Pathology, 2020, 252, 77-87
3.219Citations (PDF)
107Cognitive markers of dementia risk in middle-aged women with bilateral salpingo-oophorectomy prior to menopause
Neurobiology of Aging, 2020, 94, 1-6
2.448Citations (PDF)
108Stathmin expression associates with vascular and immune responses in aggressive breast cancer subgroups
Scientific Reports, 2020, 10,
2.726Citations (PDF)
109Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D3.2160Citations (PDF)
110Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations
Modern Pathology, 2020, 33, 1264-1274
3.8147Citations (PDF)
111Somatic tumour testing establishes that bilateral DICER1‐associated ovarian Sertoli–Leydig cell tumours represent independent primary neoplasms
Histopathology, 2020, 77, 223-230
2.612Citations (PDF)
112Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
Scientific Reports, 2020, 10,
2.730Citations (PDF)
113Small-Cell Carcinoma of the Ovary, Hypercalcemic Type–Genetics, New Treatment Targets, and Current Management Guidelines
Clinical Cancer Research, 2020, 26, 3908-3917
4.5163Citations (PDF)
114Cancer Immunoprevention: A Case Report Raising the Possibility of “Immuno-interception”
Cancer Prevention Research, 2020, 13, 351-356
1.211Citations (PDF)
115DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor
Modern Pathology, 2020, 33, 1910-1921
3.872Citations (PDF)
116DICER1-associated sarcomas: towards a unified nomenclature
Modern Pathology, 2020, 34, 1226-1228
3.832Citations (PDF)
117Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases
Acta Neuropathologica, 2020, 141, 291-301
5.888Citations (PDF)
118Methionine Metabolism Shapes T Helper Cell Responses through Regulation of Epigenetic Reprogramming
Cell Metabolism, 2020, 31, 250-266.e9
20.8336Citations (PDF)
119Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube2.362Citations (PDF)
120DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis
Journal of Clinical Investigation, 2020, 130, 1479-1490
6.662Citations (PDF)
121Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis1.29Citations (PDF)
122RARE-17. SURVIVAL BENEFIT FOR INDIVIDUALS WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME AND BRAIN TUMORS WHO UNDERGO SURVEILLANCE PROTOCOL. A REPORT FROM THE INTERNATIONAL REPLICATION REPAIR CONSORTIUM
Neuro-Oncology, 2020, 22, iii445-iii446
0.90Citations (PDF)
123RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS
Neuro-Oncology, 2020, 22, iii447-iii447
0.90Citations (PDF)
124SAT-LB302 From Urolithiasis to Genetic Testing: An Unusual Presentation of MEN-4 Syndrome0.20Citations (PDF)
125Homologous recombination DNA repair defects in PALB2-associated breast cancers4.750Citations (PDF)
126Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes
Human Mutation, 2019, 40, 1939-1953
1.0139Citations (PDF)
127Imaging of DICER1 syndrome
Pediatric Radiology, 2019, 49, 1488-1505
1.348Citations (PDF)
128The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer4.745Citations (PDF)
129Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer1.624Citations (PDF)
130eIF4A Inhibitors Suppress Cell-Cycle Feedback Response and Acquired Resistance to CDK4/6 Inhibition in Cancer
Molecular Cancer Therapeutics, 2019, 18, 2158-2170
1.239Citations (PDF)
131Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
European Urology, 2019, 76, 831-842
1.1233Citations (PDF)
132Oestrogen receptor status and survival in women with BRCA2-associated breast cancer
British Journal of Cancer, 2019, 120, 398-403
4.134Citations (PDF)
133CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary10.8112Citations (PDF)
134SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer10.8183Citations (PDF)
135BRCA1andBRCA2pathogenic sequence variants in women of African origin or ancestry
Human Mutation, 2019, 40, 1781-1796
1.039Citations (PDF)
136Mesenchymal Hamartoma of the Liver and DICER1 Syndrome
New England Journal of Medicine, 2019, 380, 1834-1842
26.462Citations (PDF)
137SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Cancer Research, 2019, 79, 2761-2774
2.666Citations (PDF)
138The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type0.419Citations (PDF)
139Case 35-2018: A Woman with Back Pain and a Remote History of Breast Cancer26.40Citations (PDF)
140A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
Human Mutation, 2019, 40, 649-655
1.049Citations (PDF)
141Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Cancer Cell, 2019, 35, 256-266.e5
28.4172Citations (PDF)
142Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers1.816Citations (PDF)
143Une immunodéficience combinée causée par une mutation du gène ICOSLG
Medecine/Sciences, 2019, 35, 625-628
0.20Citations (PDF)
144Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome
Genes Chromosomes and Cancer, 2019, 58, 602-604
1.710Citations (PDF)
145Expanding the morphological spectrum of ovarian microcystic stromal tumour
Histopathology, 2019, 74, 443-451
2.628Citations (PDF)
146Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome3.135Citations (PDF)
147An update on the central nervous system manifestations of DICER1 syndrome
Acta Neuropathologica, 2019, 139, 689-701
5.8108Citations (PDF)
148Survey of primary care physicians’ views about breast and ovarian cancer screening for true BRCA1/2 non-carriers0.91Citations (PDF)
149DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma3.1113Citations (PDF)
150Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices2.858Citations (PDF)
151Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries
Congenital Heart Disease, 2018, 13, 401-406
0.03Citations (PDF)
152Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma2.111Citations (PDF)
153A novel DICER1 mutation in familial multinodular goitre
Clinical Endocrinology, 2018, 89, 110-112
1.56Citations (PDF)
154Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers
JAMA Oncology, 2018, 4, 1059
10.9171Citations (PDF)
155GATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia0.55Citations (PDF)
156Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers1.829Citations (PDF)
157Hereditary SWI/SNF complex deficiency syndromes1.864Citations (PDF)
158Thorough in silico and in vitro cDNA analysis of 21 putativeBRCA1andBRCA2splice variants and a complex tandem duplication inBRCA2allowing the identification of activated cryptic splice donor sites inBRCA2exon 11
Human Mutation, 2018, 39, 515-526
1.06Citations (PDF)
159Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion
Genes Chromosomes and Cancer, 2018, 57, 223-230
1.742Citations (PDF)
160Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
British Journal of Cancer, 2018, 118, 266-276
4.118Citations (PDF)
161Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers2.816Citations (PDF)
162Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Genetics in Medicine, 2018, 20, 294-302
3.331Citations (PDF)
163Ovarian Microcystic Stromal Tumors Are Characterized by Alterations in the Beta-Catenin-APC Pathway and May be an Extracolonic Manifestation of Familial Adenomatous Polyposis2.350Citations (PDF)
164TBIO-25. CHOROID PLEXUS PAPILLOMAS IN FAMILIES WITH DICER1 MUTATION ASSOCIATED DISEASE
Neuro-Oncology, 2018, 20, i185-i185
0.90Citations (PDF)
165SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities1.12Citations (PDF)
166Loss of human ICOSL results in combined immunodeficiency
Journal of Experimental Medicine, 2018, 215, 3151-3164
5.958Citations (PDF)
167Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
Nature Genetics, 2018, 50, 1650-1657
14.1213Citations (PDF)
168Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation
Gynecologic Oncology, 2018, 150, 85-91
2.397Citations (PDF)
169Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers1.812Citations (PDF)
170Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?0.97Citations (PDF)
171Retrospective evaluation of a decision‐support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors0.927Citations (PDF)
172Infantile Pulmonary Teratoid Tumor
New England Journal of Medicine, 2018, 378, 2238-2240
26.419Citations (PDF)
173Ovarian small cell carcinoma in one of a pair of monozygous twins
Familial Cancer, 2018, 18, 161-163
1.14Citations (PDF)
174The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first‐degree relative with breast cancer
Clinical Genetics, 2018, 93, 1063-1068
1.520Citations (PDF)
175Clinical, morphological and immunohistochemical evidence that small‐cell carcinoma of the ovary of hypercalcaemic type (SCCOHT) may be a primitive germ‐cell neoplasm
Histopathology, 2017, 70, 1147-1154
2.652Citations (PDF)
176Oncogenic role of PDK4 in human colon cancer cells
British Journal of Cancer, 2017, 116, 930-936
4.1110Citations (PDF)
177gsSKAT: Rapid gene set analysis and multiple testing correction for rare‐variant association studies using weighted linear kernels
Genetic Epidemiology, 2017, 41, 297-308
2.49Citations (PDF)
178Expression of Nestin associates with BRCA1 mutations, a basal-like phenotype and aggressive breast cancer2.729Citations (PDF)
179Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome
Clinical Cancer Research, 2017, 23, e62-e67
4.5180Citations (PDF)
180PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood
Clinical Cancer Research, 2017, 23, e76-e82
4.5159Citations (PDF)
181Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
British Journal of Cancer, 2017, 116, 1621-1626
4.135Citations (PDF)
182Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Nature Genetics, 2017, 49, 680-691
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183Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted?
Gynecologic Oncology, 2017, 145, 346-351
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184Compromised BRCA1–PALB2 interaction is associated with breast cancer risk
Oncogene, 2017, 36, 4161-4170
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185Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, 2017, 49, 1767-1778
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186A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer
Nature Genetics, 2017, 49, 1476-1486
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187Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma
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188Retinoblastoma and Neuroblastoma Predisposition and Surveillance
Clinical Cancer Research, 2017, 23, e98-e106
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189Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood
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190DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors2.3161Citations (PDF)
191Genetics meets pathology – an increasingly important relationship
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192Bilateral Oophorectomy and Breast Cancer Risk inBRCA1andBRCA2Mutation Carriers3.2181Citations (PDF)
193Breast cancer in systemic lupus
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194No Evidence of Excessive Cancer Screening in Female Noncarriers from BRCA1/2 Mutation–Positive Families
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195Anaplastic sarcomas of the kidney are characterized by DICER1 mutations
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196Low yield of gastroscopy in patients with Lynch syndrome0.813Citations (PDF)
197Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
PLoS ONE, 2016, 11, e0158801
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198Adult-Onset Cervical Embryonal Rhabdomyosarcoma and DICER1 Mutations1.428Citations (PDF)
199Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case‐Control Sequencing Studies
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200Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations1.167Citations (PDF)
201Loss of SMARCA4 (BRG1) protein expression as determined by immunohistochemistry in small‐cell carcinoma of the ovary, hypercalcaemic type distinguishes these tumours from their mimics
Histopathology, 2016, 69, 727-738
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202PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Journal of Medical Genetics, 2016, 53, 800-811
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203Tumor progression in DICER1-mutated cystic nephroma—witnessing the genesis of anaplastic sarcoma of the kidney
Human Pathology, 2016, 53, 114-120
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204Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation
Genetics in Medicine, 2016, 18, 627-634
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205Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary)
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206The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type
Gynecologic Oncology, 2016, 141, 454-460
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207Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant4.0254Citations (PDF)
208SomaticDICER1mutations in adult-onset pulmonary blastoma
European Respiratory Journal, 2016, 47, 1879-1882
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209Rare non-epithelial ovarian neoplasms: Pathology, genetics and treatment
Gynecologic Oncology, 2016, 142, 190-198
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210REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants4.02,942Citations (PDF)
211Recently characterized molecular events in uncommon gynaecological neoplasms and their clinical importance
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212Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter3.141Citations (PDF)
213Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer10.8103Citations (PDF)
214Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus10.892Citations (PDF)
215Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung
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216Gynecologic Manifestations of the DICER1 Syndrome
Surgical Pathology Clinics, 2016, 9, 227-241
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217Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case–control study1.868Citations (PDF)
218Impaired RASGRF1/ERK–mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians4.4101Citations (PDF)
219Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors
Acta Neuropathologica, 2016, 131, 847-863
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220Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer
Cancer Letters, 2016, 370, 302-312
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221Hereditary leiomyomatosis and renal cell cancer syndrome
Cmaj, 2016, 188, 140-140
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222High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome2.283Citations (PDF)
223Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant
Journal of Clinical Oncology, 2016, 34, e61-e67
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224Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.31.820Citations (PDF)
225The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases
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226Prophylactic oophorectomy for hereditary small cell carcinoma of the ovary, hypercalcemic type0.432Citations (PDF)
227An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers3.428Citations (PDF)
228Ovarian Sex Cord-Stromal Tumors in Patients With Probable or Confirmed Germline DICER1 Mutations1.144Citations (PDF)
229Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma
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230Prospective evaluation of alcohol consumption and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers1.813Citations (PDF)
231Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors
New England Journal of Medicine, 2015, 373, 1985-1986
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232Primary rhabdoid tumor of the ovary: When large cells become small cells0.47Citations (PDF)
233Establishing a Clinic-Based Pancreatic Cancer and Periampullary Tumour Research Registry in Quebec
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234Germline RECQL mutations are associated with breast cancer susceptibility
Nature Genetics, 2015, 47, 643-646
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235Effect of Oophorectomy on Survival After Breast Cancer inBRCA1andBRCA2Mutation Carriers
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236Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci0.659Citations (PDF)
237Psychosocial Impact of Lynch Syndrome on Affected Individuals and Families
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238Radiographic Screening of Infants and Young Children With Genetic Predisposition for Rare Malignancies: DICER1 Mutations and Pleuropulmonary Blastoma
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239Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome
Human Pathology, 2015, 46, 917-922
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240Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers?1.89Citations (PDF)
241Germline TP53 mutational spectrum in French Canadians with breast cancer1.823Citations (PDF)
242ClinGen and Genetic Testing
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243Weight Gain After Oophorectomy Among Women with a BRCA1 or BRCA2 Mutation
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244Epithelial inactivation of Yy1 abrogates lung branching morphogenesis
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245Population genetic testing for cancer susceptibility: founder mutations to genomes54.398Citations (PDF)
246Germ-line and somatic DICER1 mutations in pineoblastoma
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247Breast-Cancer Risk in Families with Mutations in PALB2
New England Journal of Medicine, 2014, 371, 1650-1652
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248A Prior Diagnosis of Breast Cancer is a Risk Factor for Breast Cancer in Brca1 and Brca2 Carriers
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249Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma
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250DICER1mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS)
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251No small surprise – small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour
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252Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada1.420Citations (PDF)
253Breast-Cancer Risk in Families With Mutations in PALB20.41Citations (PDF)
254The Histomorphology of Lynch Syndrome–associated Ovarian Carcinomas2.3119Citations (PDF)
255Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis
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256Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
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257Multinodular Goiter in Children: An Important Pointer to a Germline DICER1 Mutation3.135Citations (PDF)
258Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
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259Cultural Aspects of Healthy BRCA Carriers From Two Ethnocultural Groups
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260DICER1: mutations, microRNAs and mechanisms
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261CARD9 Deficiency and Spontaneous Central Nervous System Candidiasis: Complete Clinical Remission With GM-CSF Therapy3.7173Citations (PDF)
262Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study1.828Citations (PDF)
263Breast-Cancer Risk in Families with Mutations in PALB226.4845Citations (PDF)
264SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis
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265Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations
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266Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers1.841Citations (PDF)
267Exploring the Association BetweenDICER1Mutations and Differentiated Thyroid Carcinoma3.1129Citations (PDF)
268Prognostic significance of FOXP3+ tumor-infiltrating lymphocytes in breast cancer depends on estrogen receptor and human epidermal growth factor receptor-2 expression status and concurrent cytotoxic T-cell infiltration3.4216Citations (PDF)
269Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient
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270DICER1 hotspot mutations in non-epithelial gonadal tumours
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271Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB21.317Citations (PDF)
272The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation1.870Citations (PDF)
273The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: An international prospective cohort study
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274Familial rhabdoid tumour 'avant la lettre'—from pathology review to exome sequencing and back again
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275Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent1.827Citations (PDF)
276Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation
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277Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three‐dimensional nuclear organization of patient‐derived cell lines
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278Should all BRCA1 mutation carriers with stage I breast cancer receive chemotherapy?1.831Citations (PDF)
279Hereditary Colorectal Cancer Registries in Canada: Report from the Colorectal Cancer Association of Canada Consensus Meeting; Montreal, Quebec; October 28, 2011
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280Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer
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281Germ-line and somaticDICER1mutations in a pleuropulmonary blastoma
Pediatric Blood and Cancer, 2013, 60, 2091-2092
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282The G84E mutation of HOXB13 is associated with increased risk for prostate cancer: results from the REDUCE trial
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283Biallelic DICER1 mutations occur in Wilms tumours
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284Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease
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285Life insurance: genomic stratification and risk classification2.149Citations (PDF)
286Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study
British Journal of Cancer, 2013, 110, 530-534
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287Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma: Figure 1
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288Oophorectomy after Menopause and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers0.649Citations (PDF)
289Recurrent SomaticDICER1Mutations in Nonepithelial Ovarian Cancers26.4469Citations (PDF)
290The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers
British Journal of Cancer, 2012, 107, 2005-2009
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291Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families
British Journal of Cancer, 2012, 106, 1460-1463
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292PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2
British Journal of Cancer, 2012, 107, 800-807
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293Anthropometric Measures and Risk of Ovarian Cancer Among BRCA1 and BRCA2 Mutation Carriers
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294Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers3.4117Citations (PDF)
295Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families1.86Citations (PDF)
296CD8+ lymphocyte infiltration is an independent favorable prognostic indicator in basal-like breast cancer3.4425Citations (PDF)
297A whole‐genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor‐negative and ‐positive breast cancers
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298Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG
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299The risk of breast cancer in women with a BRCA1 mutation from North America and Poland2.844Citations (PDF)
300Reading Between the Lines: A Comparison of Responders and Non‐responders to a Family History Questionnaire and Implications for Cancer Genetic Counselling1.87Citations (PDF)
301A founder BRCA2 mutation in non‐Afrikaner breast cancer patients of the Western Cape of South Africa
Clinical Genetics, 2012, 81, 179-184
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302Rare germline mutations inPALB2and breast cancer risk: A population-based study
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303HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)
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304Genetic architecture of prostate cancer in the Ashkenazi Jewish population
British Journal of Cancer, 2011, 105, 864-869
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305The Effect of a DNA Repair Gene on Cellular Invasiveness: Xrcc3 Over-Expression in Breast Cancer Cells
PLoS ONE, 2011, 6, e16394
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306Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome
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307Prognostic significance of CD8+ T lymphocytes in breast cancer depends upon both oestrogen receptor status and histological grade
Histopathology, 2011, , no-no
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308Breast, ovarian, and endometrial malignancies in systemic lupus erythematosus: a meta-analysis
British Journal of Cancer, 2011, 104, 1478-1481
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309Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
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310A survey of APC mutations in Quebec
Familial Cancer, 2011, 10, 659-665
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311Inherited Mutations in Breast Cancer Genes—Risk and Response1.658Citations (PDF)
312Qualitative thematic analysis of consent forms used in cancer genome sequencing
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313Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines1.344Citations (PDF)
314Diabetes and breast cancer among women with BRCA1 and BRCA2 mutations
Cancer, 2011, 117, 1812-1818
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315<emph type="ital">DICER1</emph> Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors14.4326Citations (PDF)
316Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG)
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317Vascular proliferation is a prognostic factor in breast cancer1.834Citations (PDF)
318Is Breast Cancer the Same Disease in Asian and Western Countries?
World Journal of Surgery, 2010, 34, 2308-2324
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319BRCA1 and BRCA2 families and the risk of skin cancer
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320Alcohol consumption and the risk of breast cancer among BRCA1 and BRCA2 mutation carriers
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321Therapeutic implications of Src independent calcium mobilization in diffuse large B-cell lymphoma
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322How old is this mutation? - a study of three Ashkenazi Jewish founder mutations
BMC Genetics, 2010, 11,
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323Genome‐wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for prostate cancer Genetics using novel sumLINK and sumLOD analyses
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324Family History of Cancer and Cancer Risks in Women with BRCA1 or BRCA2 Mutations3.2100Citations (PDF)
325Intrinsic Breast Tumor Subtypes, Race, and Long-Term Survival in the Carolina Breast Cancer Study
Clinical Cancer Research, 2010, 16, 6100-6110
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326Neonatal Gardner Fibroma: A Sentinel Presentation of Severe Familial Adenomatous Polyposis
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327Subtyping of Breast Cancer by Immunohistochemistry to Investigate a Relationship between Subtype and Short and Long Term Survival: A Collaborative Analysis of Data for 10,159 Cases from 12 Studies
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328Traffic Control for BRCA126.410Citations (PDF)
329Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families
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330Triple-Negative Breast Cancer
New England Journal of Medicine, 2010, 363, 1938-1948
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331Homozygous BUB1B Mutation and Susceptibility to Gastrointestinal Neoplasia
New England Journal of Medicine, 2010, 363, 2628-2637
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332Tumor size and survival in breast cancer—a reappraisal54.3118Citations (PDF)
333A PALB2 mutation associated with high risk of breast cancer3.4109Citations (PDF)
334Colonic or coelomic?
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335RAD51C germline mutations in breast and ovarian cancer patients3.451Citations (PDF)
336A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays
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337On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations2.1124Citations (PDF)
338International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation1.833Citations (PDF)
339Clinical Implications of Next-Generation Sequencing for Cancer Medicine
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340Expression of epidermal growth factor receptor in relation to BRCA1 status, basal-like markers and prognosis in breast cancer1.331Citations (PDF)
341High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families
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342Functional redundancy of exon 12 ofBRCA2revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant
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343Long‐term outcome after neo‐adjuvant chemotherapy for breast cancer in BRCA1/2 carriers
International Journal of Cancer, 2009, 125, 2236-2238
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344Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
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345The contribution of founder mutations to early‐onset breast cancer in French‐Canadian women
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346Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers1.838Citations (PDF)
347Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case–control study
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348Hereditary breast cancer: new genetic developments, new therapeutic avenues
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349Analysis of the gene coding for the BRCA2‐Interacting protein PALB2 in hereditary prostate cancer
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350Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance
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351International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers
International Journal of Cancer, 2008, 122, 2017-2022
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352Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach2.143Citations (PDF)
353Rapid progression of prostate cancer in men with a BRCA2 mutation
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354Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation
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355Synchronous occult cancers of the endometrium and fallopian tube in an MSH2 mutation carrier at time of prophylactic surgery
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356Identification of a novel CHEK2variant and assessment of its contribution to the risk of breast cancer in French Canadian women
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357Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review
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358Inherited Susceptibility to Common Cancers
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359The combination of high cyclin E and Skp2 expression in breast cancer is associated with a poor prognosis and the basal phenotype
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360Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer
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361Triple-Negative Breast Cancer: Risk Factors to Potential Targets
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362Predictors of Contralateral Prophylactic Mastectomy in Women With a BRCA1 or BRCA2 Mutation: The Hereditary Breast Cancer Clinical Study Group
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363BRCA1 mutations contribute to cell motility and invasion by affecting its main regulators
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364Multiple Novel Prostate Cancer Predisposition Loci Confirmed by an International Study: The PRACTICAL Consortium0.6152Citations (PDF)
365Sporadic desmoid tumor in an Ashkenazi patient homozygous for theAPC*I1307Kgene mutation
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366PALB2/FANCN, acteur dans la prédisposition au cancer du sein ?
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367Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update1.831Citations (PDF)
368MSI-H colorectal cancers preferentially retain and expand intraepithelial lymphocytes rather than peripherally derived CD8+ T cells3.111Citations (PDF)
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370Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics
Human Molecular Genetics, 2007, 16, 1271-1278
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371Sonographic Features of Breast Carcinoma Presenting as Masses inBRCAGene Mutation Carriers1.319Citations (PDF)
372Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier1.112Citations (PDF)
373Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study
Lancet Oncology, The, 2007, 8, 26-34
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374Are triple-negative tumours and basal-like breast cancer synonymous?3.4101Citations (PDF)
375Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women3.4134Citations (PDF)
376Use of immunohistochemical markers can refine prognosis in triple negative breast cancer
BMC Cancer, 2007, 7,
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377Clinically Relevant Biology of Hereditary Breast Cancer
Seminars in Oncology, 2007, 34, 379-383
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378Validation study of the lambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women
Clinical Genetics, 2007, 72, 87-97
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379Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers1.847Citations (PDF)
380Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families1.833Citations (PDF)
381Are triple negative tumours and basal-like breast cancer synonymous?3.48Citations (PDF)
382Spontaneous and therapeutic abortions and the risk of breast cancer among BRCAmutation carriers3.449Citations (PDF)
383Familial Adenomatous Polyposis0.7631Citations (PDF)
384Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics
Human Genetics, 2006, 120, 471-485
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385Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent
Clinical Genetics, 2006, 70, 320-329
1.529Citations (PDF)
386The Basal Phenotype of BRCA1-Related Breast Cancer
Breast Diseases, 2006, 17, 22-25
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387Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study
Lancet Oncology, The, 2006, 7, 402-406
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388The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations1.815Citations (PDF)
389Haplotype analysis suggest common founders in carriers of the recurrent BRCA2mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families1.821Citations (PDF)
390Multiple primary malignancies in a patient with situs ambiguus
Clinical Genetics, 2006, 69, 528-531
1.510Citations (PDF)
391Transforming growth factor-beta pathway disruption and infiltration of colorectal cancers by intraepithelial lymphocytes
Histopathology, 2006, 49, 371-380
2.615Citations (PDF)
392Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness
British Journal of Cancer, 2006, 95, 243-244
4.12Citations (PDF)
393The Value of Multi-Modal Gene Screening in HNPCC in Quebec: Three Mutations in Mismatch Repair Genes that would have not been Correctly Identified by Genomic DNA Sequencing Alone
Familial Cancer, 2006, 5, 21-28
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394BRCA1 and BRCA2: Chemosensitivity, Treatment Outcomes and Prognosis
Familial Cancer, 2006, 5, 135-142
1.1128Citations (PDF)
395Tumor Buds Show Reduced Expression of Laminin-5 Gamma 2 Chain in DNA Mismatch Repair Deficient Colorectal Cancer1.217Citations (PDF)
396Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
Human Mutation, 2006, 27, 388-388
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397Coffee consumption and breast cancer risk amongBRCA1 andBRCA2 mutation carriers2.878Citations (PDF)
398Tamoxifen and contralateral breast cancer inBRCA1 andBRCA2 carriers: An update
International Journal of Cancer, 2006, 118, 2281-2284
2.8252Citations (PDF)
399The Basal Phenotype of BRCA1-Related Breast Cancer: Past, Present and Future
Cell Cycle, 2006, 5, 963-967
2.346Citations (PDF)
400ALMNASplicing Mutation in Two Sisters with Severe Dunnigan-Type Familial Partial Lipodystrophy Type 23.147Citations (PDF)
401Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation14.4578Citations (PDF)
402Effect of Prior Bilateral Oophorectomy on the Presentation of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers1.42Citations (PDF)
403Novel genomic insertion-deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repair
Clinical Genetics, 2005, 68, 234-238
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404The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers
Gynecologic Oncology, 2005, 96, 222-226
2.3157Citations (PDF)
405Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)
Genes Chromosomes and Cancer, 2005, 44, 123-138
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406Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers2.8164Citations (PDF)
407Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms
Cancer, 2005, 104, 719-729
2.733Citations (PDF)
408Double frameshift mutations in APC and MSH2 in the same individual1.514Citations (PDF)
409Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
Cancer Causes and Control, 2005, 16, 667-674
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410A Basal Epithelial Phenotype Is More Frequent in Interval Breast Cancers Compared with Screen Detected Tumors0.6198Citations (PDF)
411Macrophage Scavenger Receptor 1 999C>T (R293X) Mutation and Risk of Prostate Cancer0.621Citations (PDF)
412Immunohistochemical Expression of DNA Repair Proteins in Familial Breast Cancer Differentiate BRCA2-Associated Tumors
Journal of Clinical Oncology, 2005, 23, 7503-7511
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413A Comparison of Bilateral Breast Cancers in BRCA Carriers0.646Citations (PDF)
414Breast Cancer Risk Following Bilateral Oophorectomy in BRCA1 and BRCA2 Mutation Carriers: An International Case-Control Study
Journal of Clinical Oncology, 2005, 23, 7491-7496
12.4417Citations (PDF)
415Cyclin E expression in breast cancer: predicting germline BRCA1 mutations, prognosis and response to treatment
Annals of Oncology, 2005, 16, 735-742
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416A Combined Genomewide Linkage Scan of 1,233 Families for Prostate Cancer–Susceptibility Genes Conducted by the International Consortium for Prostate Cancer Genetics4.0138Citations (PDF)
417BRCA2: breaks, mistakes and failed separations
Trends in Molecular Medicine, 2005, 11, 145-148
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418Title is missing!1.411Citations (PDF)
419Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2mutation carriers3.4106Citations (PDF)
420Re: Estrogen Receptor Status of Primary Breast Cancer Is Predictive of Estrogen Receptor Status of Contralateral Breast Cancer3.22Citations (PDF)
421Breast-feeding and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers3.2185Citations (PDF)
422Germline truncating mutations in both MSH2 and BRCA2 in a single kindred
British Journal of Cancer, 2004, 90, 483-491
4.143Citations (PDF)
423Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families
Clinical Genetics, 2004, 66, 137-143
1.58Citations (PDF)
424BRCA1 and BRCA2: 1994 and beyond
Nature Reviews Cancer, 2004, 4, 665-676
34.5896Citations (PDF)
425E6/E7 proteins of HPV type 16 and ErbB-2 cooperate to induce neoplastic transformation of primary normal oral epithelial cells
Oncogene, 2004, 23, 350-358
5.2108Citations (PDF)
426Prevention and genetic testing for breast cancer: variations in medical decisions
Social Science and Medicine, 2004, 58, 1085-1096
2.049Citations (PDF)
427Mutation analysis of the tumor suppressorPTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome0.532Citations (PDF)
428Smoking and the risk of breast cancer among carriers of BRCA mutations2.847Citations (PDF)
429Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5BRCA1 andBRCA2 mutations2.845Citations (PDF)
430Contralateral Breast Cancer in BRCA1 and BRCA2 Mutation Carriers
Journal of Clinical Oncology, 2004, 22, 2328-2335
12.4615Citations (PDF)
431A636P is Associated with Early-Onset Colon Cancer in Ashkenazi Jews0.826Citations (PDF)
432Impact of germlineBRCA1mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma
Cancer, 2003, 97, 527-536
2.788Citations (PDF)
433Disruption of the expected positive correlation between breast tumor size and lymph node status inBRCA1-related breast carcinoma
Cancer, 2003, 98, 1569-1577
2.7103Citations (PDF)
434Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer1.828Citations (PDF)
435Results of a genome-wide linkage analysis in prostate cancer families ascertained through the ACTANE consortium
Prostate, 2003, 57, 270-279
1.641Citations (PDF)
436MSI-low, a real phenomenon which varies in frequency among cancer types
Journal of Pathology, 2003, 201, 389-394
3.250Citations (PDF)
437Glomeruloid microvascular proliferation is associated with p53 expression, germline BRCA1 mutations and an adverse outcome following breast cancer
British Journal of Cancer, 2003, 89, 1031-1034
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438Challenges to cancer control by screening
Nature Reviews Cancer, 2003, 3, 297-303
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439Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer3.2845Citations (PDF)
440Familial Prostate and Breast Cancer in Men Treated with Prostatectomy for Prostate Cancer: A Population based Case-Control Study
Journal of Urology, 2003, 169, 240-244
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441A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment3.4269Citations (PDF)
442Re: Italian Randomized Trial Among Women With Hysterectomy: Tamoxifen and Hormone-Dependent Breast Cancer in High-Risk Women3.20Citations (PDF)
443Re: Gynecologic Surgeries and Risk of Ovarian Cancer in Women with BRCA1 and BRCA2 Ashkenazi Founder Mutations: An Israeli Population-Based Case-Control Study3.25Citations (PDF)
444Re: Potential for Bias in Studies on Efficacy of Prophylactic Surgery for BRCA1 and BRCA2 Mutation Carriers3.24Citations (PDF)
445Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene
Carcinogenesis, 2003, 25, 369-373
2.232Citations (PDF)
446Haplotype analysis of aBRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins
Clinical Genetics, 2002, 62, 151-156
1.516Citations (PDF)
447Tamoxifen May Be an Effective Adjuvant Treatment for BRCA1-Related Breast Cancer Irrespective of Estrogen Receptor Status3.228Citations (PDF)
448An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1
Journal of Medical Genetics, 2002, 39, 323-327
2.212Citations (PDF)
449Is there a correlation between the structure of hair and breast cancer or BRCA1/2 mutations?
Physics in Medicine and Biology, 2002, 47, 1623-1632
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450Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers3.2330Citations (PDF)
451The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population4.0128Citations (PDF)
452Of mice and women
Cancer Cell, 2002, 1, 11-12
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453Fallopian tube cancer in a BRCA1 mutation carrier: Rapid development and failure of screening1.917Citations (PDF)
454Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms
Human Mutation, 2002, 19, 108-113
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455Risk of pancreatic cancer among individuals with a family history of cancer of the pancreas2.868Citations (PDF)
456Identification of genes associated with head and neck carcinogenesis by cDNA microarray comparison between matched primary normal epithelial and squamous carcinoma cells
Oncogene, 2002, 21, 2634-2640
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457High risk genes predisposing to prostate cancer development—do they exist?3.120Citations (PDF)
458Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives6.747Citations (PDF)
459The Role of Genetic Factors in the Etiology of Pancreatic Adenocarcinoma: An Update
Cancer Investigation, 2001, 19, 65-75
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460Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer1.222Citations (PDF)
461Role of molecular diagnostic testing in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer families1.217Citations (PDF)
462A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes
Clinical Genetics, 2001, 57, 213-220
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463Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer
Clinical Genetics, 2001, 59, 418-423
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464Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another
Cancer, 2001, 92, 959-968
2.7102Citations (PDF)
465FounderBRCA1 andBRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history2.840Citations (PDF)
466Title is missing!1.614Citations (PDF)
467Title is missing!
Familial Cancer, 2001, 1, 17-24
1.116Citations (PDF)
468The polymorphic CAG repeat of the androgen receptor gene: a potential role in breast cancer in women over 401.829Citations (PDF)
469Molecular Genetics of Ovarian Cancer
Molecular Biotechnology, 2001, 19, 013-028
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470Genetic mechanisms in squamous cell carcinoma of the head and neck
Oral Oncology, 2001, 37, 115-126
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471Re: Magnetic Resonance Imaging and Mammography in Women With a Hereditary Risk of Breast Cancer3.2106Citations (PDF)
472Re: Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients3.25Citations (PDF)
473A Comprehensive Analysis ofMNG1,TCO1,fPTC,PTEN,TSHR, and TRKA in Familial Nonmedullary Thyroid Cancer: Confirmation of Linkage to TCO13.176Citations (PDF)
474Increased Risk for Nonmedullary Thyroid Cancer in the First Degree Relatives of Prevalent Cases of Nonmedullary Thyroid Cancer: A Hospital-Based Study3.1137Citations (PDF)
475Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET
Journal of Medical Genetics, 2001, 38, 784-787
2.250Citations (PDF)
476Increased Risk for Nonmedullary Thyroid Cancer in the First Degree Relatives of Prevalent Cases of Nonmedullary Thyroid Cancer: A Hospital-Based Study3.153Citations (PDF)
477A Comprehensive Analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in Familial Nonmedullary Thyroid Cancer: Confirmation of Linkage to TCO13.129Citations (PDF)
478Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer
Journal of Surgical Oncology, 2000, 18, 287-295
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479Increased risk of head and neck cancer in association withGSTT1 nullizygosity for individuals with low exposure to tobacco2.821Citations (PDF)
480Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome
Annals of Oncology, 2000, 11, 307-314
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481An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling
Journal of Medical Genetics, 2000, 37, 866-874
2.296Citations (PDF)
482Penetrance of Mutations in the Familial Wilms Tumor Gene FWT13.219Citations (PDF)
483Commentary on “Prevalence of BRCA1 and BRCA2 Mutations in Male Breast Cancer Patients in Canada”
Clinical Breast Cancer, 2000, 1, 64-65
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484No association between P53 codon 72 polymorphism and risk of squamous cell carcinoma of the head and neck
British Journal of Cancer, 2000, 82, 757-759
4.154Citations (PDF)
485True
British Journal of Cancer, 2000, 82, 1646-1649
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486Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36
Journal of Medical Genetics, 2000, 37, 947-949
2.228Citations (PDF)
487The influence of familial and hereditary factors on the prognosis of breast cancer
Annals of Oncology, 1999, 10, 1163-1170
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488Fortnightly review: Hereditary ovarian carcinoma
BMJ: British Medical Journal, 1999, 318, 786-789
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489A missense mutation in both hMSH2 andAPC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening
Journal of Medical Genetics, 1999, 36, 792-793
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490Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours
British Journal of Cancer, 1999, 80, 70-72
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491The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of breast cancer
British Journal of Cancer, 1999, 81, 850-854
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492An absence of founderBRCA2 mutations in individuals with squamous cell carcinoma of the head and neck
1999, 83, 803-804
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493Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2
Lancet, The, 1999, 354, 1846-1850
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494The Importance of a Family History of Breast Cancer in Predicting the Presence of a BRCA Mutation4.015Citations (PDF)
495Loss of heterozygosity of methylenetetrahydrofolate reductase in colon carcinomas.2.210Citations (PDF)
496The APC I1307K allele and breast cancer risk
Nature Genetics, 1998, 20, 13-14
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497Risk factors for familial and sporadic ovarian cancer among French Canadians: A case-control study1.963Citations (PDF)
498Is hereditary site-specific ovarian cancer a distinct genetic condition?0.515Citations (PDF)
499Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations
1998, 11, 424-431
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500I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer
Clinical Genetics, 1998, 54, 368-370
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501BRCA1 and BRCA2: penetrating the clinical arena
Lancet, The, 1998, 352, 1325-1326
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502False family history of breast cancer in the family cancer clinic0.923Citations (PDF)
503Linkage Analysis of Chromosome 1q Markers in 136 Prostate Cancer Families4.0125Citations (PDF)
504Founder BRCA1 and BRCA2 Mutations in French Canadian Breast and Ovarian Cancer Families4.0164Citations (PDF)
505Genetic implications of double primary cancers of the colorectum and endometrium.
Journal of Medical Genetics, 1998, 35, 978-984
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506Effect of Smoking on Breast Cancer in Carriers of Mutant BRCA1 or BRCA2 Genes3.2119Citations (PDF)
507Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer4.0211Citations (PDF)
508The CDKN2A (p16) Gene and Human Cancer
Molecular Medicine, 1997, 3, 5-20
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509Excess of congenital abnormalities in French-Canadian children with neuroblastoma: A case series study from Montreal
1997, 29, 272-279
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510Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women
Cancer, 1997, 80, 435-441
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511CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein
1997, 73, 531-536
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512Polymorphisms in P21CIP1/WAF1 are not correlated with TP53 status in sporadic ovarian tumours
European Journal of Cancer, 1996, 32, 2360-2363
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513Cutaneous malignant melanoma in women is uncommonly associated with a family history of melanoma in first-degree relatives: a case-control study
Melanoma Research, 1996, 6, 435-440
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514Genetic Screening for Breast Cancer
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515Pancreatic adenocarcinoma: epidemiology and genetics.
Journal of Medical Genetics, 1996, 33, 889-898
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516Increased incidence of cancer in first degree relatives of women with double primary carcinomas of the breast and colon.
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517Relative contribution should be given after each author's name
BMJ: British Medical Journal, 1996, 312, 1423.6
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518Familial risks of squamous cell carcinoma of the head and neck: retrospective case-control study
BMJ: British Medical Journal, 1996, 313, 716-721
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519Relative contribution should be given after each author's name
BMJ: British Medical Journal, 1996, 312, 1423-1423
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520A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome0.319Citations (PDF)
521MDM2 overexpression is rare in ovarian carcinoma irrespective of TP53 mutation status
British Journal of Cancer, 1995, 72, 883-888
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522Loh and mutation analysis ofCDKN2 in primary human ovarian cancers2.838Citations (PDF)
523Family history of cancer is a risk factor for squamous cell carcinoma of the head and neck in Brazil: A case‐control study2.8102Citations (PDF)
524A somatic BRCA1 mutation in an ovarian tumour
Nature Genetics, 1995, 9, 343-344
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525Family History and Risk of Ovarian Cancer14.44Citations (PDF)
526A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1
Human Molecular Genetics, 1994, 3, 589-594
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527Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22
Human Mutation, 1994, 3, 283-291
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528Loss of heterozygosity on chromosome 22 in ovarian carcinoma is distal to and is not accompanied by mutations in NF2 at 22q12
British Journal of Cancer, 1994, 70, 905-907
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529Mutation analysis of RASK and the ‘FLR exon’ of NF1 in sporadic ovarian carcinoma
European Journal of Cancer, 1994, 30, 528-530
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530Very frequent loss of heterozygosity throughout chromosome 17 in sporadic ovarian carcinoma2.889Citations (PDF)
531The expanded role of NF1
Nature Genetics, 1993, 3, 282-282
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532Breast cancer, desmold tumours, and familial adenomatous polyposis
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533Tumour suppressor genes in ovarian cancer.
BMJ: British Medical Journal, 1993, 307, 1009.3-1009
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534Loss of heterozygosity and amplification on chromosome 11q in human ovarian cancer
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535Frequent loss of heterozygosity on chromosome 6 in human ovarian carcinoma
British Journal of Cancer, 1993, 67, 551-559
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536Tumor necrosis factor and its receptors in human ovarian cancer. Potential role in disease progression.6.6225Citations (PDF)
537Genetics of cancer
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538Rhabdomyolysis after intramuscular iron-dextran in malabsorption.6.518Citations (PDF)
539Influenza A and rhabdomyolysis
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540Antral Helicobacter pylori, hypergastrinaemia, and duodenal ulcers: effect of eradicating the organism.
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541Renal Cancer in Hereditary Leiomyomatosis and Renal Cell Cancer: A Scoping Review of Epidemiology, Clinical Features, Management, and Outcomes
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542Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis
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543Towards a WHO classification of genetic tumour syndromes
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544Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome
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545Assessing and predicting cutaneous leiomyoma severity in hereditary leiomyomatosis and renal cell cancer syndrome: An observational study1.51Citations (PDF)
546Comparative Transcriptome Analyses Highlight Distinct Pathogenetic Mechanisms for Pleuropulmonary Blastoma and Congenital Pulmonary Airway Malformations0.60Citations (PDF)
547Chromophobe thyroid carcinoma: a distinct entity associated with TSC gene alterations1.90Citations (PDF)
548Germline DICER1 variants and thyroblastoma: caution is needed in classifying variants as likely pathogenic or pathogenic1.90Citations (PDF)
549Piloleiomyoma and renal cell carcinoma in a 30-year-old woman with hereditary leiomyomatosis and renal cell cancer syndrome
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550BRCA1 and BRCA2 carriers: Perceptions of endometrial cancer risk
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551Cancer risks in the Lynch syndromes3.21Citations (PDF)
552FLCN -Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN -Associated Pathogenesis0.62Citations (PDF)
553Daneman Syndrome Revisited
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554Piloléiomyome et carcinome à cellules rénales chez une femme de 30 ans atteinte du syndrome de léiomyomatose héréditaire associée au cancer du rein
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555Rare solid tumours as indicators of hereditary cancer syndromes2.10Citations (PDF)
556Abstract 3760: Spatial immune signatures predict outcomes in HPV-positive oropharyngeal cancer: Results of a clinical trial
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557A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair-deficient breast or ovarian cancer
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558Causative Role for a BRCA2 Germline Pathogenic Variant in External Auditory Canal Squamous Cell Carcinoma1.71Citations (PDF)
559Hiding in plain sight: DICER1 ‐associated yolk sac tumour masquerading as an endometrioid carcinoma of the ovary
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560Multimodal analysis of a rare BARD1 missense variant suggests its pathogenicity is conditional4.70Citations (PDF)
561The Impact of Pathogenic Variants of BRCA1, BRCA2, and other DNA-Repair Genes on the Survival Benefits Conferred by PARP Inhibitors–Single-Centre Experience from Quebec0.60Citations (PDF)
56276868 Assessing Diagnostic Delays in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: A Retrospective Cohort Study1.50Citations (PDF)
563Abstract IA003: DICER1-related tumor predisposition: genotypes, phenotypes and mechanisms
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564Comprehensive characterization of DNA polymerases driver variants using large genomic dataset2.70Citations (PDF)
565HMGA2 is a highly sensitive marker for DICER1 ‐related tumours2.60Citations (PDF)
566Low Prevalence of Hereditary Melanoma Among Patients Referred for Genetic Testing: A Multicentre Retrospective Cohort Study1.50Citations (PDF)