Associated Papers
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
BRCA2 germline mutation carrier with five malignancies: a case report.
Su E et al.
Hereditary Cancer in Clinical Practice, 2024
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC et al.
American Journal of Human Genetics, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer.
Leon P et al.
The Prostate, 2021
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão A et al.
International Journal of Molecular Sciences, 2020
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS et al.
Genome Medicine, 2019
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair.
Esposito MV et al.
Cancers, 2019
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Nones K et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O et al.
American Journal of Human Genetics, 2019
Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review.
Kryklyva V et al.
Cancer Biology & Therapy, 2019
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Copson ER et al.
The Lancet. Oncology, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Pritzlaff M et al.
Breast Cancer Research and Treatment, 2017
Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories.
Taylor RA et al.
Nature Communications, 2017
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas.
Furukawa T et al.
Scientific Reports, 2015
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
Wong-Brown MW et al.
Breast Cancer Research and Treatment, 2015
The role of BRCA1 and BRCA2 in prostate cancer.
Li D et al.
Frontiers in Bioscience (landmark Edition), 2013
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.
Castro E et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2013
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Johnston JJ et al.
American Journal of Human Genetics, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.
Edwards SM et al.
British Journal of Cancer, 2010
Overexpression of RAD51 occurs in aggressive prostatic cancer.
Mitra A et al.
Histopathology, 2009
Evidence of a founder BRCA1 mutation in Scotland.
Liede A et al.
British Journal of Cancer, 2000