| 1 | Understanding the genetic complexity of puberty timing across the allele frequency spectrum | 25.2 | 47 | Citations (PDF) |
| 2 | A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report | 2.6 | 3 | Citations (PDF) |
| 3 | Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays | 2.6 | 3 | Citations (PDF) |
| 4 | Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study | 4.9 | 20 | Citations (PDF) |
| 5 | Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases | 3.8 | 1 | Citations (PDF) |
| 6 | ENIGMA
CHEK2
gether Project: A Comprehensive Study Identifies Functionally Impaired
CHEK2
Germline Missense Variants Associated with Increased Breast Cancer Risk | 6.8 | 27 | Citations (PDF) |
| 7 | Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel | 3.8 | 3 | Citations (PDF) |
| 8 | Breast and Prostate Cancer Risks for MaleBRCA1andBRCA2Pathogenic Variant Carriers Using Polygenic Risk Scores | 4.6 | 41 | Citations (PDF) |
| 9 | A Microsatellite in the Coding Sequence of HLA-A/B Is a Mutation Hotspot in Colon Cancer With Microsatellite Instability | 0.9 | 2 | Citations (PDF) |
| 10 | Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants | 4.2 | 29 | Citations (PDF) |
| 11 | Polygenic risk modeling for prediction of epithelial ovarian cancer risk | 3.0 | 61 | Citations (PDF) |
| 12 | Common variants in breast cancer risk loci predispose to distinct tumor subtypes | 4.7 | 28 | Citations (PDF) |
| 13 | Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes | 14.3 | 121 | Citations (PDF) |
| 14 | The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type | 2.3 | 2 | Citations (PDF) |
| 15 | Breast cancer risks associated with missense variants in breast cancer susceptibility genes | 9.6 | 53 | Citations (PDF) |
| 16 | Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers | 4.4 | 14 | Citations (PDF) |
| 17 | A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers | 13.7 | 39 | Citations (PDF) |
| 18 | Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women | 34.5 | 1,036 | Citations (PDF) |
| 19 | Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies? | 3.8 | 8 | Citations (PDF) |
| 20 | Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer | 1.6 | 10 | Citations (PDF) |
| 21 | The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant | 4.2 | 30 | Citations (PDF) |
| 22 | OCT Biomarkers in Neovascular Age-Related Macular Degeneration: A Narrative Review | 3.2 | 78 | Citations (PDF) |
| 23 | Altered regulation of
BRCA1
exon 11 splicing is associated with breast cancer risk in carriers of
BRCA1
pathogenic variants | 4.5 | 12 | Citations (PDF) |
| 24 | Mendelian randomisation study of smoking exposure in relation to breast cancer risk | 5.5 | 21 | Citations (PDF) |
| 25 | Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy | 3.8 | 8 | Citations (PDF) |
| 26 | Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness | 3.8 | 50 | Citations (PDF) |
| 27 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes | 25.2 | 171 | Citations (PDF) |
| 28 | Cancer Risks Associated With GermlinePALB2Pathogenic Variants: An International Study of 524 Families | 16.9 | 409 | Citations (PDF) |
| 29 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants | 4.2 | 121 | Citations (PDF) |
| 30 | BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers | 3.8 | 8 | Citations (PDF) |
| 31 | Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk | 6.5 | 61 | Citations (PDF) |
| 32 | Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse | 3.9 | 13 | Citations (PDF) |
| 33 | Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses | 25.2 | 471 | Citations (PDF) |
| 34 | Characterization of the Cancer Spectrum in Men With GermlineBRCA1andBRCA2Pathogenic Variants | 14.3 | 64 | Citations (PDF) |
| 35 | Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status | 3.1 | 43 | Citations (PDF) |
| 36 | The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases | 3.8 | 11 | Citations (PDF) |
| 37 | BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories | 2.8 | 3 | Citations (PDF) |
| 38 | The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer | 6.4 | 44 | Citations (PDF) |
| 39 | Two truncating variants in FANCC and breast cancer risk | 3.4 | 7 | Citations (PDF) |
| 40 | Shared heritability and functional enrichment across six solid cancers | 13.7 | 108 | Citations (PDF) |
| 41 | GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes | 3.8 | 7 | Citations (PDF) |
| 42 | Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives | 5.0 | 63 | Citations (PDF) |
| 43 | Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers | 5.5 | 22 | Citations (PDF) |
| 44 | Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report | 3.8 | 50 | Citations (PDF) |
| 45 | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer | 13.7 | 118 | Citations (PDF) |
| 46 | Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance | 3.8 | 26 | Citations (PDF) |
| 47 | Genome-wide association study of germline variants and breast cancer-specific mortality | 5.5 | 62 | Citations (PDF) |
| 48 | The association between weight at birth and breast cancer risk revisited using Mendelian randomisation | 5.3 | 17 | Citations (PDF) |
| 49 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes | 6.5 | 1,034 | Citations (PDF) |
| 50 | Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy | 4.3 | 53 | Citations (PDF) |
| 51 | Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study | 4.6 | 39 | Citations (PDF) |
| 52 | Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis | 4.9 | 95 | Citations (PDF) |
| 53 | The BRCA2
c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity | 4.5 | 20 | Citations (PDF) |
| 54 | Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 | 13.7 | 42 | Citations (PDF) |
| 55 | Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition | 0.6 | 4 | Citations (PDF) |
| 56 | A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy | 2.3 | 27 | Citations (PDF) |
| 57 | Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy | 2.6 | 33 | Citations (PDF) |
| 58 | Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction | 2.6 | 13 | Citations (PDF) |
| 59 | BRCA1
and BRCA2
5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding | 4.5 | 17 | Citations (PDF) |
| 60 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer | 25.2 | 230 | Citations (PDF) |
| 61 | Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers | 3.0 | 30 | Citations (PDF) |
| 62 | BRCA2
Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer | 3.8 | 90 | Citations (PDF) |
| 63 | Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk | 25.2 | 534 | Citations (PDF) |
| 64 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer | 25.2 | 503 | Citations (PDF) |
| 65 | Association analysis identifies 65 new breast cancer risk loci | 37.9 | 1,431 | Citations (PDF) |
| 66 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | 25.2 | 405 | Citations (PDF) |
| 67 | Whole‐exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene | 4.0 | 37 | Citations (PDF) |
| 68 | Body mass index and breast cancer survival: a Mendelian randomization analysis | 4.9 | 57 | Citations (PDF) |
| 69 | A Targeted Approach to Genetic Counseling in Breast Cancer Patients: The Experience of an Italian Local Project | 1.4 | 6 | Citations (PDF) |
| 70 | Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers | 2.3 | 12 | Citations (PDF) |
| 71 | Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus | 2.3 | 12 | Citations (PDF) |
| 72 | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS | 3.8 | 208 | Citations (PDF) |
| 73 | Naturally occurring
BRCA2
alternative mRNA splicing events in clinically relevant samples | 3.8 | 79 | Citations (PDF) |
| 74 | Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus | 4.7 | 37 | Citations (PDF) |
| 75 | Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study | 2.7 | 23 | Citations (PDF) |
| 76 | Genetic predisposition to ductal carcinoma in situ of the breast | 4.7 | 54 | Citations (PDF) |
| 77 | Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 | 4.7 | 100 | Citations (PDF) |
| 78 | An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression | 2.9 | 34 | Citations (PDF) |
| 79 | Retina-derived POU domain factor 1 coordinates expression of genes relevant to renal and neuronal development | 2.6 | 11 | Citations (PDF) |
| 80 | rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk | 3.4 | 2 | Citations (PDF) |
| 81 | Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2 | 2.3 | 14 | Citations (PDF) |
| 82 | Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women | 4.7 | 68 | Citations (PDF) |
| 83 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer | 13.7 | 103 | Citations (PDF) |
| 84 | Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus | 13.7 | 90 | Citations (PDF) |
| 85 | The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk | 4.7 | 11 | Citations (PDF) |
| 86 | Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms | 2.9 | 123 | Citations (PDF) |
| 87 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 | 25.2 | 150 | Citations (PDF) |
| 88 | BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers | 4.6 | 82 | Citations (PDF) |
| 89 | No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer | 3.0 | 20 | Citations (PDF) |
| 90 | Association 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 11q22.3 | 2.3 | 20 | Citations (PDF) |
| 91 | RAD51B in Familial Breast Cancer | 2.3 | 29 | Citations (PDF) |
| 92 | An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers | 4.7 | 28 | Citations (PDF) |
| 93 | Common germline polymorphisms associated with breast cancer-specific survival | 4.7 | 29 | Citations (PDF) |
| 94 | Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair | 0.5 | 1 | Citations (PDF) |
| 95 | Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers | 2.3 | 40 | Citations (PDF) |
| 96 | Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants | 4.6 | 486 | Citations (PDF) |
| 97 | Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2 | 2.9 | 41 | Citations (PDF) |
| 98 | Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1 | 6.5 | 84 | Citations (PDF) |
| 99 | Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer | 2.8 | 18 | Citations (PDF) |
| 100 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer | 25.2 | 247 | Citations (PDF) |
| 101 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer | 25.2 | 584 | Citations (PDF) |
| 102 | Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: Results from a multicenter study in Italy | 4.9 | 30 | Citations (PDF) |
| 103 | FANCMc.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor | 2.9 | 108 | Citations (PDF) |
| 104 | Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression | 6.5 | 40 | Citations (PDF) |
| 105 | Identification of Novel Genetic Markers of Breast Cancer Survival | 4.6 | 65 | Citations (PDF) |
| 106 | Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer | 16.5 | 489 | Citations (PDF) |
| 107 | Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair | 25.2 | 427 | Citations (PDF) |
| 108 | Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization | 4.6 | 114 | Citations (PDF) |
| 109 | Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk | 2.9 | 40 | Citations (PDF) |
| 110 | Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium | 2.9 | 10 | Citations (PDF) |
| 111 | Association between CASP8 –652 6N Del Polymorphism (rs3834129) and Colorectal Cancer Risk: Results from a Multi-Centric Study | 2.3 | 8 | Citations (PDF) |
| 112 | MicroRNA Related Polymorphisms and Breast Cancer Risk | 2.3 | 52 | Citations (PDF) |
| 113 | Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast | 3.2 | 45 | Citations (PDF) |
| 114 | DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers | 3.2 | 55 | Citations (PDF) |
| 115 | Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium | 2.9 | 58 | Citations (PDF) |
| 116 | Risk of desmoid tumours after open and laparoscopic colectomy in patients with familial adenomatous polyposis | 0.3 | 69 | Citations (PDF) |
| 117 | Association of SULT1A1 Arg213His polymorphism with male breast cancer risk: results from a multicenter study in Italy | 2.3 | 7 | Citations (PDF) |
| 118 | Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia | 4.7 | 111 | Citations (PDF) |
| 119 | Breast-Cancer Risk in Families With Mutations in PALB2 | 0.5 | 1 | Citations (PDF) |
| 120 | Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers | 4.7 | 63 | Citations (PDF) |
| 121 | Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium | 2.9 | 109 | Citations (PDF) |
| 122 | PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo | 4.2 | 28 | Citations (PDF) |
| 123 | A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium | 2.9 | 34 | Citations (PDF) |
| 124 | FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium | 5.5 | 22 | Citations (PDF) |
| 125 | Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche | 37.9 | 627 | Citations (PDF) |
| 126 | Breast-Cancer Risk in Families with Mutations in
PALB2 | 34.5 | 839 | Citations (PDF) |
| 127 | Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation | 13.7 | 110 | Citations (PDF) |
| 128 | Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade | 2.9 | 14 | Citations (PDF) |
| 129 | Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing | 1.1 | 100 | Citations (PDF) |
| 130 | Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study | 4.7 | 14 | Citations (PDF) |
| 131 | Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability | 1.4 | 14 | Citations (PDF) |
| 132 | Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1 | 2.3 | 25 | Citations (PDF) |
| 133 | miR-342 Regulates BRCA1 Expression through Modulation of ID4 in Breast Cancer | 2.3 | 62 | Citations (PDF) |
| 134 | COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration | 4.7 | 39 | Citations (PDF) |
| 135 | First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report | 2.9 | 37 | Citations (PDF) |
| 136 | A Classification Model for
BRCA2
DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity | 3.8 | 111 | Citations (PDF) |
| 137 | Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1 | 6.5 | 105 | Citations (PDF) |
| 138 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | 25.2 | 523 | Citations (PDF) |
| 139 | Is Wilms Tumor a Candidate Neoplasia for Treatment with WNT/β-Catenin Pathway Modulators?—A Report from the Renal Tumors Biology-Driven Drug Development Workshop | 1.9 | 31 | Citations (PDF) |
| 140 | Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy | 2.3 | 32 | Citations (PDF) |
| 141 | X chromosome inactivation pattern in BRCA gene mutation carriers | 4.9 | 12 | Citations (PDF) |
| 142 | Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: A retrospective study in a sample of Italian cancer genetics clinics | 2.3 | 22 | Citations (PDF) |
| 143 | Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers | 6.5 | 209 | Citations (PDF) |
| 144 | Genome-wide association studies identify four ER negative–specific breast cancer risk loci | 25.2 | 402 | Citations (PDF) |
| 145 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk | 25.2 | 1,027 | Citations (PDF) |
| 146 | A novel WT1 mutation in familial wilms tumor | 1.3 | 23 | Citations (PDF) |
| 147 | Loss of Heterozygosity Analysis at Different Chromosome Regions in Wilms Tumor Confirms 1p Allelic Loss as a Marker of Worse Prognosis: A Study from the Italian Association of Pediatric Hematology and Oncology | 4.2 | 34 | Citations (PDF) |
| 148 | Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk | 3.2 | 115 | Citations (PDF) |
| 149 | Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk | 3.2 | 261 | Citations (PDF) |
| 150 | Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines | 4.5 | 69 | Citations (PDF) |
| 151 | First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis | 1.5 | 5 | Citations (PDF) |
| 152 | Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles | 2.3 | 100 | Citations (PDF) |
| 153 | Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations | 2.3 | 66 | Citations (PDF) |
| 154 | Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility | 2.3 | 20 | Citations (PDF) |
| 155 | Integrative Analysis of Hereditary Nonpolyposis Colorectal Cancer: the Contribution of Allele-Specific Expression and Other Assays to Diagnostic Algorithms | 2.3 | 10 | Citations (PDF) |
| 156 | A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers | 1.1 | 24 | Citations (PDF) |
| 157 | 19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus | 3.8 | 105 | Citations (PDF) |
| 158 | Common Variants at the 19p13.1 and
ZNF365
Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in
BRCA1
and
BRCA2
Mutation Carriers | 1.1 | 53 | Citations (PDF) |
| 159 | Pathology of Breast and Ovarian Cancers among
BRCA1
and
BRCA2
Mutation Carriers: Results from the Consortium of Investigators of Modifiers of
BRCA1
/
2
(CIMBA) | 1.1 | 619 | Citations (PDF) |
| 160 | Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1 | 3.8 | 50 | Citations (PDF) |
| 161 | 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium | 1.1 | 17 | Citations (PDF) |
| 162 | PO60 Characterization of a young women population affected with breast cancer and tested for BRCA1/BRCA2 gene mutations: a monocentric series | 2.3 | 0 | Citations (PDF) |
| 163 | Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families | 1.4 | 30 | Citations (PDF) |
| 164 | Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases | 2.3 | 11 | Citations (PDF) |
| 165 | Analysis of Gene Copy Number Variations using a Method Based on Lab-on-a-Chip Technology | 1.4 | 5 | Citations (PDF) |
| 166 | 11q13 is a susceptibility locus for hormone receptor positive breast cancer | 4.5 | 36 | Citations (PDF) |
| 167 | Identification of fifteen novel germline variants in theBRCA13′UTR reveals a variant in a breast cancer case that introduces a functionalmiR-103target site | 4.5 | 51 | Citations (PDF) |
| 168 | Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy | 2.3 | 78 | Citations (PDF) |
| 169 | The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers | 2.3 | 10 | Citations (PDF) |
| 170 | Methylation of O 6-methylguanine-DNA methyltransferase (MGMT) promoter gene in triple-negative breast cancer patients | 2.3 | 40 | Citations (PDF) |
| 171 | The SNP rs895819 in miR-27a is not associated with familial breast cancer risk in Italians | 2.3 | 28 | Citations (PDF) |
| 172 | Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers | 4.7 | 83 | Citations (PDF) |
| 173 | Genomic profiling by whole‐genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse | 3.0 | 31 | Citations (PDF) |
| 174 | Ovarian cancer susceptibility alleles and risk of ovarian cancer inBRCA1andBRCA2mutation carriers | 4.5 | 35 | Citations (PDF) |
| 175 | Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) | 2.3 | 52 | Citations (PDF) |
| 176 | Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer | 1.1 | 27 | Citations (PDF) |
| 177 | Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies | 4.6 | 630 | Citations (PDF) |
| 178 | Exploring the link between MORF4L1 and risk of breast cancer | 4.7 | 26 | Citations (PDF) |
| 179 | Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 | 4.7 | 76 | Citations (PDF) |
| 180 | Familial Adenomatous Polyposis-Associated Desmoids Display Significantly More Genetic Changes than Sporadic Desmoids | 2.3 | 25 | Citations (PDF) |
| 181 | Evidence for a link between TNFRSF11A and risk of breast cancer | 2.3 | 12 | Citations (PDF) |
| 182 | Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations | 2.3 | 14 | Citations (PDF) |
| 183 | Is WTX a suitable target for cancer therapy? | 1.3 | 2 | Citations (PDF) |
| 184 | Telomere maintenance in wilms tumors: First evidence for the presence of alternative lengthening of telomeres mechanism | 3.0 | 17 | Citations (PDF) |
| 185 | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers | 2.9 | 70 | Citations (PDF) |
| 186 | Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium† | 2.9 | 73 | Citations (PDF) |
| 187 | The Role of KRAS rs61764370 in Invasive Epithelial Ovarian Cancer: Implications for Clinical Testing | 6.8 | 48 | Citations (PDF) |
| 188 | The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain | 3.8 | 13 | Citations (PDF) |
| 189 | Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers | 2.9 | 37 | Citations (PDF) |
| 190 | Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers | 4.6 | 43 | Citations (PDF) |
| 191 | Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer | 5.0 | 100 | Citations (PDF) |
| 192 | POU6F2 (POU domain, class 6, transcription factor 2) | 0.2 | 0 | Citations (PDF) |
| 193 | Evaluation of SNPs inmiR-146a,miR196a2andmiR-499as low-penetrance alleles in German and Italian familial breast cancer cases | 4.5 | 149 | Citations (PDF) |
| 194 | A 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 | 25.2 | 318 | Citations (PDF) |
| 195 | Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for
BRCA1
and
BRCA2
Mutation Carriers: Implications for Risk Prediction | 3.8 | 176 | Citations (PDF) |
| 196 | Ultradeep Sequencing of a Human Ultraconserved Region Reveals Somatic and Constitutional Genomic Instability | 5.0 | 30 | Citations (PDF) |
| 197 | Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer | 3.2 | 89 | Citations (PDF) |
| 198 | Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility | 3.8 | 378 | Citations (PDF) |
| 199 | HMGA1 protein expression in familial breast carcinoma patients | 4.9 | 19 | Citations (PDF) |
| 200 | Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: A meta-analysis | 4.9 | 250 | Citations (PDF) |
| 201 | The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers | 2.3 | 12 | Citations (PDF) |
| 202 | PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer | 2.3 | 37 | Citations (PDF) |
| 203 | Prognostic Relevance of
MLH1
and
MSH2
Mutations in Hereditary Non-Polyposis Colorectal Cancer Patients | 1.4 | 8 | Citations (PDF) |
| 204 | Misbehaviour of XIST RNA in Breast Cancer Cells | 2.3 | 79 | Citations (PDF) |
| 205 | Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers | 2.9 | 100 | Citations (PDF) |
| 206 | SNPs in ultraconserved elements and familial breast cancer risk | 2.8 | 23 | Citations (PDF) |
| 207 | Nonfluorescent Denaturing HPLC–Based Primer-Extension Method for Allele-Specific Expression: Application to Analysis of Mismatch Repair Genes | 1.1 | 3 | Citations (PDF) |
| 208 | Reproductive and Hormonal Factors, and Ovarian Cancer Risk for
BRCA1
and
BRCA2
Mutation Carriers: Results from the International
BRCA1/2
Carrier Cohort Study | 1.1 | 136 | Citations (PDF) |
| 209 | Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1 | 1.8 | 38 | Citations (PDF) |
| 210 | Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome | 1.3 | 7 | Citations (PDF) |
| 211 | Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers | 6.5 | 267 | Citations (PDF) |
| 212 | Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases | 4.8 | 16 | Citations (PDF) |
| 213 | Functional inactivation of the WTX gene is not a frequent event in Wilms’ tumors | 6.5 | 63 | Citations (PDF) |
| 214 | The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases | 2.1 | 20 | Citations (PDF) |
| 215 | BRCA1 p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy | 16.9 | 45 | Citations (PDF) |
| 216 | Re: Molecular Basis for Estrogen Receptor Deficiency in BRCA1-Linked Breast Cancer | 4.6 | 2 | Citations (PDF) |
| 217 | Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases | 2.3 | 20 | Citations (PDF) |
| 218 | Age at Menarche and Menopause and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study | 1.1 | 74 | Citations (PDF) |
| 219 | Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families | 4.9 | 45 | Citations (PDF) |
| 220 | Non‐chromosome 11‐p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case | 1.5 | 5 | Citations (PDF) |
| 221 | Increased frequency of disease-causing MYH mutations in colon cancer families | 2.8 | 47 | Citations (PDF) |
| 222 | Incidental Carcinomas in Prophylactic Specimens in BRCA1 and BRCA2 Germ-line Mutation Carriers, With Emphasis on Fallopian Tube Lesions | 3.5 | 133 | Citations (PDF) |
| 223 | The Murine Pou6f2 Gene is Temporally and Spatially Regulated During Kidney Embryogenesis and its Human Homolog is Overexpressed in a Subset of Wilms Tumors | 0.7 | 10 | Citations (PDF) |
| 224 | Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements | 4.5 | 19 | Citations (PDF) |
| 225 | WT1 Gene Analysis in Sporadic Early-Onset and Bilateral Wilms Tumor Patients Without Associated Abnormalities | 0.7 | 8 | Citations (PDF) |
| 226 | Wilms Tumor in Monozygous Twins | 0.7 | 3 | Citations (PDF) |
| 227 | Germline mutations ofAXIN2are not associated with nonsyndromic colorectal cancer | 4.5 | 15 | Citations (PDF) |
| 228 | Cyclooxygenase-2 Expression in FAP Patients Carrying Germ Line MYH Mutations | 1.1 | 9 | Citations (PDF) |
| 229 | Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families | 2.1 | 8 | Citations (PDF) |
| 230 | APC Genotype Is Not a Prognostic Factor in Familial Adenomatous Polyposis Patients With Colorectal Cancer | 1.7 | 6 | Citations (PDF) |
| 231 | The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy | 4.5 | 41 | Citations (PDF) |
| 232 | Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14 | 4.5 | 42 | Citations (PDF) |
| 233 | Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas | 4.3 | 163 | Citations (PDF) |
| 234 | Atypical Epithelial Proliferation in Fallopian Tubes in Prophylactic Salpingo-oophorectomy Specimens from BRCA1 and BRCA2 Germline Mutation Carriers | 1.3 | 140 | Citations (PDF) |
| 235 | Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation | 2.3 | 23 | Citations (PDF) |
| 236 | Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies | 6.5 | 3,348 | Citations (PDF) |
| 237 | Multiple Approach to the Exploration of Genotype-Phenotype Correlations in Familial Adenomatous Polyposis | 16.9 | 197 | Citations (PDF) |
| 238 | Extended genotype-phenotype correlation in familial adenomatous polyposis: A multiple approach to identify a specific APC mutation | 0.9 | 0 | Citations (PDF) |
| 239 | Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis | 4.3 | 218 | Citations (PDF) |
| 240 | Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer | 4.5 | 217 | Citations (PDF) |
| 241 | Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours | 3.0 | 18 | Citations (PDF) |
| 242 | Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method | 5.5 | 4 | Citations (PDF) |
| 243 | Genotype and Phenotype Factors as Determinants for Rectal Stump Cancer in Patients With Familial Adenomatous Polyposis | 4.6 | 89 | Citations (PDF) |
| 244 | Microsatellite instability in colorectal-cancer patients with suspected genetic predisposition | 4.3 | 33 | Citations (PDF) |
| 245 | Screening for mutations of theAPC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation | 4.5 | 44 | Citations (PDF) |
| 246 | Survival of patients with hereditary colorectal cancer: Comparison of HNPCC and colorectal cancer in FAP patients with sporadic colorectal cancer 1999, 80, 183-187 | | 69 | Citations (PDF) |
| 247 | Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae | 25.2 | 140 | Citations (PDF) |
| 248 | Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours | 5.5 | 86 | Citations (PDF) |
| 249 | A novel EWS-ERG rearrangement generating two hybrid mRNAs in a peripheral primitive neuroectodermal tumour (pPNET) with a t(15;22) translocation 1998, 186, 434-437 | | 10 | Citations (PDF) |
| 250 | Concurrent pheochromocytoma, paraganglioma, papillary thyroid carcinoma, and desmoid tumor: A case report with analyses at the molecular level | 11.5 | 6 | Citations (PDF) |
| 251 | Screening for mutations of the adenomatous polynosis coli (APC) gene in 67 Italian familial adenomatous polyposis: Further evidence of complex genotype-phenotype correlations | 0.9 | 1 | Citations (PDF) |
| 252 | Oral Contraceptives and the Risk of Hereditary Ovarian Cancer | 34.5 | 616 | Citations (PDF) |
| 253 | Rapid Assessment of Replication Error Phenotype in Gastric Cancer | 1.4 | 1 | Citations (PDF) |
| 254 | No evidence of WT1 involvement in a Burkitt’s lymphoma in a patient with Denys–Drash syndrome | 9.9 | 6 | Citations (PDF) |
| 255 | Chromosomal Localizations and Molecular Analysis ofTDGGene-Related Sequences | 2.8 | 14 | Citations (PDF) |
| 256 | Recommendations for the Molecular Diagnosis of Familial Adenomatous Polyposis | 1.4 | 2 | Citations (PDF) |
| 257 | Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes 1997, 19, 135-142 | | 47 | Citations (PDF) |
| 258 | Mapping of a Putative Tumor Suppressor Locus to Proximal 7p in Wilms Tumors | 2.8 | 47 | Citations (PDF) |
| 259 | Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin | 2.9 | 33 | Citations (PDF) |
| 260 | Molecular Genetics of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) | 1.4 | 5 | Citations (PDF) |
| 261 | The coatomer protein δ-COP, encoded by the archain gene, is conserved across diverse eukaryotes | 2.3 | 20 | Citations (PDF) |
| 262 | The human archain gene, ARCN1, has highly conserved homologs in rice and drosophila | 2.8 | 27 | Citations (PDF) |
| 263 | Allelotyping in Wilms Tumors Identifies a Putative Third Tumor Suppressor Gene on Chromosome 11 | 2.8 | 20 | Citations (PDF) |
| 264 | Homozygous intragenic loss of the WT1 locus in a sporadic intralobar wilms' tumor | 4.3 | 7 | Citations (PDF) |
| 265 | A Panel of Sequence Tagged Sites for Chromosome Band 11q23 | 2.8 | 6 | Citations (PDF) |
| 266 | Distinct breakpoints in band 11q23 of the t(4;11) and t(11;14) associated with leukocyte malignancy | 3.0 | 7 | Citations (PDF) |
| 267 | Taql RFLP of the human tropomyosin gene (TPM3) involved in the generation of the TRK oncogene | 15.5 | 5 | Citations (PDF) |
| 268 | Sacl identifies an additional RFLP at the D11S12 locus | 15.5 | 1 | Citations (PDF) |
| 269 | Onco-Suppressor Genes in Human Cancer | 1.4 | 1 | Citations (PDF) |
| 270 | Monoclonal Antibodies Against NIH 3T3 Cells Transformed by Human Thyroid Carcinoma DNA | 0.2 | 1 | Citations (PDF) |
| 271 | BgIII polymorphisn of the epidermal growth factor receptor (EGF-R) gene | 15.5 | 1 | Citations (PDF) |
| 272 | RFLP for TaqI of the human thyroid papillary carcinoma (PTC) oncogene | 15.5 | 2 | Citations (PDF) |
| 273 | LOSS OF POLYMORPHIC RESTRICTION FRAGMENTS OF CLASS I AND CLASS II MHC GENES IN A MALIGNANT MELANOMA | 1.4 | 9 | Citations (PDF) |
| 274 | Two RFLPs generated by Taq I at the human HRAS1 locus | 15.5 | 8 | Citations (PDF) |
| 275 | Integration and Expression of Mcf-13 Provirus in Mcf-13-Induced Lymphomas | 1.4 | 3 | Citations (PDF) |
