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
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position].
Yukisawa S et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis.
Nyberg T et al.
British Journal of Cancer, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series.
Sukumar J et al.
Breast Cancer Research and Treatment, 2021
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
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Rowley SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma.
Walker EJ et al.
Familial Cancer, 2019
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
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes.
Kerr ID et al.
Journal of Community Genetics, 2017
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Natarajan P et al.
Science Translational Medicine, 2016
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
George A et al.
Scientific Reports, 2016