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249 peer-reviewed articles • 10,532 peer-reviewed citations • Sorted by year • Download PDF (PDF by citations)
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1Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumour Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group
Clinical Cancer Research, 2025, 31, 1754-1765
4.819Citations (PDF)
2Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes2.43Citations (PDF)
3Exploring MRI and Mammography Lesion Features for Breast Cancer Detection in PTEN Hamartoma Tumor Syndrome
Cancers, 2025, 17, 856
2.91Citations (PDF)
4Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients
Clinical Genetics, 2025, 108, 400-411
1.61Citations (PDF)
5The continued ageing of people with AIDS in Italy: recent trend from the national AIDS Registry.1.00Citations (PDF)
6Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Cancers, 2024, 16, 953
2.93Citations (PDF)
7Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome
International Dental Journal, 2024, 74, 1424-1431
0.73Citations (PDF)
8Neuropsychological functioning of adults with PTEN hamartoma tumor syndrome1.12Citations (PDF)
9The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.2.44Citations (PDF)
10Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study
International Journal of Cancer, 2024, 155, 1567-1576
2.94Citations (PDF)
11Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow
Familial Cancer, 2024, 23, 1-8
1.36Citations (PDF)
12Genomic instability in non–breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/23.47Citations (PDF)
13Increased frequency of infections and autoimmune disease in adults with Hamartoma Tumour Syndrome1.34Citations (PDF)
14Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.3.452Citations (PDF)
15Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.3.418Citations (PDF)
16Yield of annual endometrial cancer surveillance in women with Hamartoma Tumor Syndrome1.38Citations (PDF)
17The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer: Tumor-First or Germline-First?
Gynecologic Oncology, 2023, 174, 121-128
2.411Citations (PDF)
18Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis.
Gynecologic Oncology, 2022, 164, 221-230
2.436Citations (PDF)
19Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer
Gastroenterology, 2022, 162, 969-974.e6
7.43Citations (PDF)
20Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes1.323Citations (PDF)
21Cancer worry among BRCA1/2 pathogenic variant carriers choosing surgery to prevent tubal/ovarian cancer: course over time and associated factors
Supportive Care in Cancer, 2022, 30, 3409-3418
1.97Citations (PDF)
22Risk of Peritoneal Carcinomatosis After Risk-Reducing Salpingo-Oophorectomy: A Systematic Review and Individual Patient Data Meta-Analysis
Journal of Clinical Oncology, 2022, 40, 1879-1891
17.293Citations (PDF)
23Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD1.35Citations (PDF)
24Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups
Familial Cancer, 2022, 22, 1-11
1.36Citations (PDF)
25Catch them if you are aware: postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review1.312Citations (PDF)
26The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome
Cancer, 2022, 128, 2883-2891
2.814Citations (PDF)
27Detection and Yield of Colorectal Cancer Surveillance in Adults with PTEN Hamartoma Tumour Syndrome
Cancers, 2022, 14, 4005
2.96Citations (PDF)
28Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome
Gastroenterology, 2022, 163, 1691-1694.e7
7.431Citations (PDF)
29A review on age-related cancer risks in PTEN hamartoma tumor syndrome
Clinical Genetics, 2021, 99, 219-225
1.673Citations (PDF)
30Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair–Deficient Lynch-Like Tumors
Gastroenterology, 2021, 160, 1414-1416.e3
7.413Citations (PDF)
31No signs of subclinical atherosclerosis after risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers
Journal of Cardiology, 2021, 77, 570-575
2.17Citations (PDF)
32RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps
Histopathology, 2021, 78, 749-758
2.719Citations (PDF)
33European Reference Networks: challenges and opportunities1.153Citations (PDF)
34Breast cancer surveillance in women with PTEN Hamartoma Tumour Syndrome (PHTS)
Breast, 2021, 56, S38
0.90Citations (PDF)
35Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome
Cancers, 2021, 13, 2345
2.99Citations (PDF)
36A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report2.410Citations (PDF)
37Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
Lancet Oncology, The, 2021, 22, 1014-1022
15.4102Citations (PDF)
38Association of Salpingectomy With Delayed Oophorectomy Versus Salpingo-oophorectomy With Quality of Life in BRCA1/2 Pathogenic Variant Carriers: A Nonrandomized Controlled Trial
JAMA Oncology, 2021, 7, 1203-1212
11.678Citations (PDF)
39Evaluation of a patient decision aid for BRCA1/2 pathogenic variant carriers choosing an ovarian cancer prevention strategy
Gynecologic Oncology, 2021, 163, 371-377
2.45Citations (PDF)
40Red flags for early recognition of adult patients with Hamartoma Tumour Syndrome1.319Citations (PDF)
41Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe1.356Citations (PDF)
42Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.3.462Citations (PDF)
43Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes–Considerations for Future Studies3.313Citations (PDF)
44Hereditary diffuse gastric cancer: updated clinical practice guidelines
Lancet Oncology, The, 2020, 21, e386-e397
15.4390Citations (PDF)
45Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer.
Gastroenterology, 2020, 159, 2241-2243.e6
7.435Citations (PDF)
46Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome2.4135Citations (PDF)
47Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome
International Journal of Cancer, 2020, 147, 2150-2158
2.928Citations (PDF)
48Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium0.731Citations (PDF)
49TRIM28 haploinsufficiency predisposes to Wilms tumor2.948Citations (PDF)
50Effect of PTEN inactivating germline mutations on innate immune cell function and thyroid cancer-induced macrophages in patients with PTEN hamartoma tumor syndrome
Oncogene, 2019, 38, 3743-3755
5.523Citations (PDF)
51Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families
Journal of Medical Genetics, 2019, 56, 581-589
2.439Citations (PDF)
52Romidepsin suppresses monosodium urate crystal-induced cytokine production through upregulation of suppressor of cytokine signaling 1 expression3.140Citations (PDF)
53Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Cancer Cell, 2019, 35, 256-266.e5
29.9151Citations (PDF)
54Cancer-related distress in unselected women with newly diagnosed breast or ovarian cancer undergoing BRCA1/2 testing without pretest genetic counseling
Acta Oncológica, 2019, 58, 175-181
1.57Citations (PDF)
55Hamartoma Tumor Syndrome and Immune Dysregulation
Translational Oncology, 2019, 12, 361-367
2.937Citations (PDF)
56Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis2.433Citations (PDF)
57High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Clinical Cancer Research, 2018, 24, 1594-1603
4.862Citations (PDF)
58A patient decision aid for risk-reducing surgery in premenopausal BRCA1/2 mutation carriers: Development process and pilot testing
Health Expectations, 2018, 21, 659-667
1.721Citations (PDF)
59Peritoneal carcinomatosis after risk-reducing surgery in BRCA1/2 mutation carriers
Cancer, 2018, 124, 952-959
2.836Citations (PDF)
60Self-compassion, physical fitness and climacteric symptoms in oophorectomized BRCA1/2 mutation carriers
Maturitas, 2018, 108, 13-17
2.34Citations (PDF)
61Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria
Gastrointestinal Endoscopy, 2018, 87, 397-404.e2
1.425Citations (PDF)
62High demoralization in a minority of oophorectomized BRCA1/2 mutation carriers influences quality of life1.57Citations (PDF)
63Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch syndrome carriers: Randomized controlled trial
Clinical Genetics, 2018, 93, 67-77
1.611Citations (PDF)
64Influence of Risk Category and Screening Round on the Performance of an MR Imaging and Mammography Screening Program in Carriers of the BRCA Mutation and Other Women at Increased Risk
Radiology, 2018, 286, 443-451
7.266Citations (PDF)
65NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
Journal of Pathology, 2018, 244, 135-142
3.477Citations (PDF)
66Cancer Risks for PMS2-Associated Lynch Syndrome
Journal of Clinical Oncology, 2018, 36, 2961-2968
17.2193Citations (PDF)
67The added value of mammography in different age-groups of women with and without BRCA mutation screened with breast MRI
Breast Cancer Research, 2018, 20, 1-12
3.742Citations (PDF)
68An online self-test added to colorectal cancer screening can increase the effectiveness of familial cancer risk assessment without increasing distress
Colorectal Disease, 2018, 20, 897-904
1.62Citations (PDF)
69Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)2.422Citations (PDF)
70Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
Familial Cancer, 2018, 18, 281-284
1.331Citations (PDF)
71Online self-test identifies women at high familial breast cancer risk in population-based breast cancer screening without inducing anxiety or distress3.714Citations (PDF)
72Surveillance of Women with the BRCA1 or BRCA2 Mutation by Using Biannual Automated Breast US, MR Imaging, and Mammography
Radiology, 2017, 285, 376-388
7.268Citations (PDF)
73Lifestyle Risk Factors for Breast Cancer in BRCA1/2-Mutation Carriers Around Childbearing Age1.67Citations (PDF)
74Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing2.437Citations (PDF)
75Self-compassion and climacteric symptoms in postmenopausal BRCA1/2 mutation carriers
Maturitas, 2017, 100, 130
2.30Citations (PDF)
76Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome
Cancer Letters, 2017, 403, 159-164
7.054Citations (PDF)
77Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas
Human Mutation, 2017, 38, 226-235
1.057Citations (PDF)
78Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease5.622Citations (PDF)
79Determinants of adherence to recommendations for cancer prevention among Lynch Syndrome mutation carriers: A qualitative exploration
PLoS ONE, 2017, 12, e0178205
1.613Citations (PDF)
80Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer
Genes Chromosomes and Cancer, 2016, 55, 855-863
1.729Citations (PDF)
81Opportunities for immunotherapy in microsatellite instable colorectal cancer3.497Citations (PDF)
82Prospective Dutch colorectal cancer cohort: an infrastructure for long-term observational, prognostic, predictive and (randomized) intervention research
Acta Oncológica, 2016, 55, 1273-1280
1.594Citations (PDF)
83Finding all BRCA pathogenic mutation carriers: best practice models2.416Citations (PDF)
84Very high uptake of risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers: A single-center experience
Gynecologic Oncology, 2016, 143, 113-119
2.427Citations (PDF)
85The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery3.530Citations (PDF)
86Salpingectomy With Delayed Oophorectomy in BRCA1/2 Mutation Carriers
Obstetrics and Gynecology, 2016, 127, 1054
2.919Citations (PDF)
87Cardiovascular risk of BRCA1/2 mutation carriers: A review
Maturitas, 2016, 91, 135-139
2.332Citations (PDF)
88Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline
Clinical Genetics, 2016, 90, 105-117
1.6165Citations (PDF)
89Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
Familial Cancer, 2016, 15, 563-570
1.310Citations (PDF)
90Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool1.3168Citations (PDF)
91High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling1.628Citations (PDF)
92Peer support and additional information in group medical consultations (GMCs) for BRCA1/2 mutation carriers: A randomized controlled trial
Acta Oncológica, 2016, 55, 178-87
1.56Citations (PDF)
93Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition
British Journal of Cancer, 2016, 116, 163-168
4.525Citations (PDF)
94Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences
Leukemia, 2016, 31, 821-828
4.049Citations (PDF)
95Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility
PLoS Genetics, 2016, 12, e1005880
2.354Citations (PDF)
96Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer
Scientific Reports, 2015, 5, 1-7
2.871Citations (PDF)
97Breast Self-examination Education for BRCA Mutation Carriers by Clinical Nurse Specialists0.512Citations (PDF)
98Poor Prognosis of Constitutive γ-H2AX Expressing Triple-Negative Breast Cancers is Associated With Telomere Length
Biomarkers in Medicine, 2015, 9, 383-90
1.116Citations (PDF)
99Risk-reducing salpingectomy with delayed oophorectomy in BRCA1/2 mutation carriers: Patients' and professionals' perspectives
Gynecologic Oncology, 2015, 136, 305-310
2.447Citations (PDF)
100Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
Familial Cancer, 2015, 14, 89-94
1.319Citations (PDF)
101Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development
Journal of Pathology, 2015, 236, 155-164
3.429Citations (PDF)
102Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
Journal of Medical Genetics, 2015, 52, 361-374
2.4475Citations (PDF)
103Highlights from the seventh European Multidisciplinary Colorectal Cancer Congress (EMCCC) 2014.
Ecancermedicalscience, 2015, 9, 497
0.90Citations (PDF)
104How medical choices influence quality of life of women carrying a mutation3.624Citations (PDF)
105Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1
Gastroenterology, 2015, 149, 897-906.e19
7.471Citations (PDF)
106A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
Nature Genetics, 2015, 47, 668-671
14.9331Citations (PDF)
107Improving recognition and referral of patients with an increased familial risk of colorectal cancer: results from a randomized controlled trial
Colorectal Disease, 2015, 17, 499-510
1.614Citations (PDF)
108Low prevalence of serrated polyposis syndrome in screening populations: a systematic review
Endoscopy, 2015, 47, 1043-1049
0.427Citations (PDF)
109Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress
Clinical Genetics, 2015, 87, 319-326
1.622Citations (PDF)
110Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
Familial Cancer, 2015, 15, 289-296
1.315Citations (PDF)
111BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study2.464Citations (PDF)
112NTHL1 defines novel cancer syndrome.
Oncotarget, 2015, 6, 34069-70
0.521Citations (PDF)
113DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
PLoS Genetics, 2014, 10, e1004256
2.344Citations (PDF)
114Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma1.54Citations (PDF)
115A multiplex method for the detection of serum antibodies against in silico-predicted tumor antigens3.410Citations (PDF)
116Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations
Journal of Medical Genetics, 2014, 51, 98-107
2.479Citations (PDF)
117Easy-to-use online referral test detects most patients with a high familial risk of colorectal cancer
Colorectal Disease, 2014, 16, O26-O34
1.612Citations (PDF)
118Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: A national cohort study
International Journal of Cancer, 2014, 135, 2940-2949
2.910Citations (PDF)
119Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis2.422Citations (PDF)
120Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors
Gastroenterology, 2014, 146, 643-646.e8
7.4309Citations (PDF)
121Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective
Annals of Oncology, 2014, 25, 2001-2007
20.623Citations (PDF)
122HNF4A immunohistochemistry facilitates distinction between primary and metastatic breast and gastric carcinoma1.927Citations (PDF)
123mutation carriers are potentially at higher cardiovascular risk3.630Citations (PDF)
124Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer
Gastroenterology, 2013, 145, 544-547
7.481Citations (PDF)
125Cost-effectiveness of screening women with familial risk for breast cancer with magnetic resonance imaging.3.459Citations (PDF)
126Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)2.423Citations (PDF)
127Breast cancer size estimation with MRI in BRCA mutation carriers and other high risk patients
European Journal of Radiology, 2013, 82, 1416-1422
2.216Citations (PDF)
128Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes
Familial Cancer, 2013, 12, 675-682
1.317Citations (PDF)
129Familial colorectal cancer risk assessment needs improvement for more effective cancer prevention in relatives
Colorectal Disease, 2013, 15, e175-e185
1.620Citations (PDF)
130Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.
Human Molecular Genetics, 2013, 22, 919-26
2.258Citations (PDF)
131Focusing on Patient Needs and Preferences May Improve Genetic Counseling for Colorectal Cancer1.612Citations (PDF)
132Comparability versus statistical correctness2.21Citations (PDF)
133More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
Familial Cancer, 2013, 13, 143-151
1.339Citations (PDF)
134Added Value of Family History in Counseling About Risk of BRCA1/2 Mutation in Early-Onset Epithelial Ovarian Cancer2.43Citations (PDF)
135Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling
PLoS ONE, 2013, 8, e55734
1.619Citations (PDF)
136A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers0.723Citations (PDF)
137Differences in Natural History between Breast Cancers in BRCA1 and BRCA2 Mutation Carriers and Effects of MRI Screening-MRISC, MARIBS, and Canadian Studies Combined0.784Citations (PDF)
138Higher cytoplasmic and nuclear poly(ADP-ribose) polymerase expression in familial than in sporadic breast cancer1.95Citations (PDF)
139Rare variants in XRCC2 as breast cancer susceptibility alleles
Journal of Medical Genetics, 2012, 49, 618-620
2.441Citations (PDF)
140Adequacy of family history taking in ovarian cancer patients: a population-based study
Familial Cancer, 2012, 11, 343-349
1.313Citations (PDF)
141Familial gastric cancer: detection of a hereditary cause helps to understand its etiology1.535Citations (PDF)
142Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance
Familial Cancer, 2012, 11, 363-369
1.365Citations (PDF)
143CDH1-related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling2.9113Citations (PDF)
144Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative
Familial Cancer, 2012, 11, 259-267
1.319Citations (PDF)
145Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita4.6116Citations (PDF)
146Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers†
Human Mutation, 2012, 33, 690-702
1.034Citations (PDF)
147EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients
Familial Cancer, 2012, 12, 169-174
1.3134Citations (PDF)
148Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome
European Journal of Cancer, 2011, 47, 1407-1413
3.710Citations (PDF)
149Adding familial risk assessment to faecal occult blood test can increase the effectiveness of population-based colorectal cancer screening
European Journal of Cancer, 2011, 47, 1571-1577
3.76Citations (PDF)
150Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Lancet Oncology, The, 2011, 12, 49-55
15.4250Citations (PDF)
151Constitutive expression of γ-H2AX has prognostic relevance in triple negative breast cancer
Radiotherapy and Oncology, 2011, 101, 39-45
1.576Citations (PDF)
152Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation2.4164Citations (PDF)
153Erfelijke darmkanker0.00Citations (PDF)
154A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients1.915Citations (PDF)
155Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Human Genetics, 2011, 130, 685-699
2.017Citations (PDF)
156Recurrence and variability of germline EPCAM deletions in Lynch syndrome†
Human Mutation, 2011, 32, 407-414
1.0139Citations (PDF)
157Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients†
International Journal of Cancer, 2011, 129, 1635-1642
2.962Citations (PDF)
158Spindle-Assembly Checkpoint and Gastrointestinal Cancer25.211Citations (PDF)
159Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Human Molecular Genetics, 2011, 20, 4732-47
2.234Citations (PDF)
160Lynch Syndrome-Associated Extracolonic Tumors Are Rare in Two Extended Families With the SameEPCAMDeletion0.656Citations (PDF)
161Electronic reminders for pathologists promote recognition of patients at risk for Lynch syndrome: cluster-randomised controlled trial1.919Citations (PDF)
162EPCAM deletions and heritable MSH2 promoter methylation in Lynch syndrome1.60Citations (PDF)
163The epigenetics of (hereditary) colorectal cancer1.627Citations (PDF)
164Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
Genes Chromosomes and Cancer, 2010, 49, 635-641
1.738Citations (PDF)
165A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population
Nature Genetics, 2010, 42, 885-892
14.9281Citations (PDF)
166Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress
Clinical Genetics, 2010, 77, 483-491
1.640Citations (PDF)
167Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
Cancer Research, 2010, 70, 9742-9754
4.5167Citations (PDF)
168Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
Journal of Medical Genetics, 2010, 47, 464-470
2.4184Citations (PDF)
169Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
PLoS Genetics, 2010, 6, e1001183
2.377Citations (PDF)
170TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Journal of Medical Genetics, 2010, 47, 421-428
2.4270Citations (PDF)
171Germline copy number variation and cancer risk2.4104Citations (PDF)
172Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress
Familial Cancer, 2010, 10, 51-57
1.36Citations (PDF)
173Body weight and risk of breast cancer in BRCA1/2 mutation carriers1.964Citations (PDF)
174A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
BMC Cancer, 2009, 9, 1-11
2.361Citations (PDF)
175The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer1.629Citations (PDF)
176Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact
Familial Cancer, 2009, 8, 325-337
1.318Citations (PDF)
177Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome
Familial Cancer, 2009, 8, 391-397
1.373Citations (PDF)
178In Lynch syndrome adenomas, loss of mismatch repair proteins is related to an enhanced lymphocytic response
Histopathology, 2009, 55, 414-422
2.726Citations (PDF)
179Deficient mismatch repair system in patients with sporadic advanced colorectal cancer
British Journal of Cancer, 2009, 100, 266-273
4.5444Citations (PDF)
180Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome
Gastroenterology, 2009, 136, 131-137
7.473Citations (PDF)
181A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2genes based on cancer family history
Breast Cancer Research, 2009, 11, 1-12
3.748Citations (PDF)
182Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers1.978Citations (PDF)
183Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years
Familial Cancer, 2009, 9, 213-220
1.319Citations (PDF)
184Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome
Leukemia, 2009, 24, 242-246
4.085Citations (PDF)
185Most Patients with Colorectal Tumors at Young Age Do Not Visit a Cancer Genetics Clinic1.332Citations (PDF)
186Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance†
Human Mutation, 2008, 29, 1292-1303
1.055Citations (PDF)
187Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?2.911Citations (PDF)
188Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus
Genes Chromosomes and Cancer, 2008, 47, 947-956
1.715Citations (PDF)
189Breast tumor characteristics of BRCA1 and BRCA2 gene mutation carriers on MRI
European Radiology, 2008, 18, 931-938
3.270Citations (PDF)
190The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited
Annals of Oncology, 2008, 19, 655-659
20.635Citations (PDF)
191Interpretation of Immunohistochemistry for Mismatch Repair Proteins is Only Reliable in a Specialized Setting2.4121Citations (PDF)
192Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis1.98Citations (PDF)
193Incidence of cancer in first-degree relatives of basal cell carcinoma patients1.03Citations (PDF)
194Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH1.9142Citations (PDF)
195Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH22.420Citations (PDF)
196Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
Nature Genetics, 2008, 41, 112-117
14.9724Citations (PDF)
197Age at Menarche and Menopause and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study0.769Citations (PDF)
198Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer
British Journal of Cancer, 2007, 96, 1605-1612
4.542Citations (PDF)
199Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies
BMC Genomics, 2007, 8, 1-13
2.225Citations (PDF)
200Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene1.621Citations (PDF)
201Optimizing the detection of hereditary non-polyposis colorectal cancer: An update1.14Citations (PDF)
202Numerous high-risk epithelial lesions in familial breast cancer
European Journal of Cancer, 2006, 42, 2492-2498
3.724Citations (PDF)
203A substantial part of the fallopian tube is left after standard prophylactic bilateral salpingo-oophorectomy.2.410Citations (PDF)
204Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability
Modern Pathology, 2006, 19, 1624-1630
3.910Citations (PDF)
205Factors Affecting Sensitivity and Specificity of Screening Mammography and MRI in Women with an Inherited Risk for Breast Cancer1.982Citations (PDF)
206A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting†
Human Mutation, 2006, 27, 654-666
1.073Citations (PDF)
207Surveillance of women at high risk for hereditary ovarian cancer is inefficient
British Journal of Cancer, 2006, 94, 814-819
4.593Citations (PDF)
208Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability
British Journal of Cancer, 2006, 95, 1678-1682
4.513Citations (PDF)
209Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of ‘easy to apply’ probability models
British Journal of Cancer, 2006, 95, 757-762
4.512Citations (PDF)
210Tumor characteristics and detection method in the MRISC screening program for the early detection of hereditary breast cancer1.938Citations (PDF)
211The decision evaluation scales1.454Citations (PDF)
212Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients
Familial Cancer, 2005, 4, 115-119
1.365Citations (PDF)
213Randomized Trial of a Shared Decision-Making Intervention Consisting of Trade-Offs and Individualized Treatment Information for BRCA1/2 Mutation Carriers
Journal of Clinical Oncology, 2004, 22, 3293-301
17.2106Citations (PDF)
214Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis
Clinical Genetics, 2004, 65, 308-316
1.659Citations (PDF)
215Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer1.164Citations (PDF)
216More Differences Between HNPCC-related and Sporadic Carcinomas From the Endometrium as Compared to the Colon2.461Citations (PDF)
217Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC
Clinical Genetics, 2003, 63, 64-70
1.618Citations (PDF)
218High Prevalence of Premalignant Lesions in Prophylactically Removed Breasts From Women at Hereditary Risk for Breast Cancer17.2134Citations (PDF)
219Atorvastatin, Diabetic Dyslipidemia, and Cognitive Functioning
Diabetes Care, 2002, 25, 1250-1251
6.924Citations (PDF)
220The effect of tibolone on the lipoprotein profile of postmenopausal women with type III hyperlipoproteinemia
Journal of Internal Medicine, 2002, 251, 148-155
3.65Citations (PDF)
221High fat intake in hyperlipidaemic patients is related to male gender, smoking, alcohol intake and obesity0.86Citations (PDF)
222Corneal arcus: indicator for severity of coronary atherosclerosis?0.86Citations (PDF)
223Atorvastatin increases low-density lipoprotein size and enhances high-density lipoprotein cholesterol concentration in male, but not in female patients with familial hypercholesterolemia
Atherosclerosis, 1999, 146, 167-174
1.943Citations (PDF)
224Gemfibrozil decreases autoantibodies against oxidized low-density lipoprotein in men with combined hyperlipidaemia
Journal of Internal Medicine, 1998, 243, 355-359
3.67Citations (PDF)
225Effects of atorvastatin on serum lipids of patients with familial hypercholesterolaemia
Journal of Internal Medicine, 1998, 244, 143-147
3.611Citations (PDF)
226The IGF-I/IGFBP system in congenital partial lipodystrophy
Clinical Endocrinology, 1998, 49, 465-473
1.513Citations (PDF)
227Estrogen replacement decreases the level of antibodies against oxidized low-density lipoprotein in postmenopausal women with coronary heart disease.9.330Citations (PDF)
228Growth hormone restores hepatic lipase mRNA levels but the translation is impaired in hepatocytes of hypothyroid rats
Lipids and Lipid Metabolism, 1997, 1345, 172-179
2.65Citations (PDF)
229Significance of various parameters derived from biological variability of lipoprotein(a), homocysteine, cysteine, and total antioxidant status
Clinical Chemistry, 1997, 43, 1958-1964
0.644Citations (PDF)
230Transient hyperlipidemia during treatment of ALL with L-asparaginase is related to decreased lipoprotein lipase activity
Leukemia, 1997, 11, 1377-1379
4.060Citations (PDF)
231The additional effects of acipimox to simvastatin in the treatment of combined hyperlipidaemia
Journal of Internal Medicine, 1997, 241, 151-155
3.619Citations (PDF)
232Growth hormone normalizes low-density lipoprotein receptor gene expression in hypothyroid rats9.313Citations (PDF)
233Hypertriglyceridemia Enhances Monocyte Binding to Endothelial Cells in NIDDM
Diabetes Care, 1996, 19, 1122-1125
6.919Citations (PDF)
234Lipoprotein(a) in Patients With Acute Cerebral Ischemia
Stroke, 1996, 27, 1231-5
4.729Citations (PDF)
235LETTERS TO THE EDITOR
Journal of Internal Medicine, 1995, 237, 603-605
3.67Citations (PDF)
236Performance of a Direct, Immunoseparation Based LDL-Cholesterol Method Compared to Friedewald Calculation and a Polyvinyl Sulphate Precipitation Method2.14Citations (PDF)
237Monocytes from patients with combined hypercholesterolemia-hypertriglyceridemia and isolated hypercholesterolemia show an increased adhesion to endothelial cells in vitro: II. Influence of intrinsic and extrinsic factors on monocyte binding9.318Citations (PDF)
238The effect of growth hormone administration in growth hormone deficient adults on bone, protein, carbohydrate and lipid homeostasis, as well as on body composition
Clinical Endocrinology, 1992, 37, 79-87
1.5271Citations (PDF)
239The efficacy and safety of pravastatin, compared to and in combination with bile acid binding resins, in familial hypercholesterolaemia
Journal of Internal Medicine, 1990, 228, 261-266
3.633Citations (PDF)
240Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome0.96Citations (PDF)
241CHEK2-associated tumour predisposition: a challenge in diagnostics and surveillance
Medizinische Genetik, 0, 37, 295-302
0.31Citations (PDF)
242Prevention strategies for hereditary gynaecological cancer in Lynch syndrome
Familial Cancer, 0, 25, 33
1.30Citations (PDF)
243Hereditary gynecological cancer management in women with Lynch syndrome: a survey across Europe.1.30Citations (PDF)
244Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.
JCO Precision Oncology, 0, 10, e2500354
1.31Citations (PDF)
245Personalized risk estimates of advanced neoplasia development in individuals with a family history of colorectal cancer.1.30Citations (PDF)
246Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.2.42Citations (PDF)
247ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).2.40Citations (PDF)
248Opportunities to improve detection of genetic predisposition for ovarian cancer applying the Tumor-First workflow.1.30Citations (PDF)