Associated Papers
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L et al.
Journal of the National Cancer Institute, 2024
Clinicopathological characteristics and eligibility for adjuvant olaparib of germline BRCA1/2 mutation carriers with HER2-negative early breast cancer.
Morganti S et al.
Npj Breast Cancer, 2024
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
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
Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
Cioffi A et al.
Cancers, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
Lee CL et al.
World Journal of Gastroenterology, 2022
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB et al.
Nature Communications, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing.
Cheung F et al.
Journal of Genetic Counseling, 2022
A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
Astiazaran-Symonds E et al.
Cancers, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG et al.
Journal of Medical Genetics, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
Bennett S et al.
European Journal of Human Genetics : Ejhg, 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
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators.
Hong F et al.
Cell, 2020
Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer.
Carlson AS et al.
Plos One, 2020
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K et al.
Jama Network Open, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Colombo M et al.
Human Mutation, 2018
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
Nguyen-Dumont T et al.
Bmc Cancer, 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
BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
Maxwell KN et al.
Nature Communications, 2017
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.
Baert A et al.
Oncology Reports, 2017
Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.
Schenk D et al.
Plos One, 2017
Biallelic Inactivation of BRCA2 in Platinum-sensitive Metastatic Castration-resistant Prostate Cancer.
Cheng HH et al.
European Urology, 2016
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
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.
Kote-Jarai Z et al.
British Journal of Cancer, 2011
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
Altered gene expression in morphologically normal epithelial cells from heterozygous carriers of BRCA1 or BRCA2 mutations.
Bellacosa A et al.
Cancer Prevention Research (philadelphia, Pa.), 2010