Associated Papers
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
Phase II study of talazoparib in advanced cancers with BRCA1/2, DNA repair, and PTEN alterations.
Piha-Paul SA et al.
Npj Precision Oncology, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
Differential Sensitivity of Germline and Somatic BRCA Variants to PARP Inhibitor in High-Grade Serous Ovarian Cancer.
Vendrell JA et al.
International Journal of Molecular Sciences, 2023
Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.
Pitiyarachchi O et al.
Translational Oncology, 2023
Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.
Borja NA et al.
Frontiers in Oncology, 2023
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
Correction to: In-Silico analyses of Nonsynonymous Variants in the BRCA1 Gene.
Arshad S et al.
Biochemical Genetics, 2022
Targeted Mutational Analysis of Circulating Tumor DNA to Decipher Temporal Heterogeneity of High-Grade Serous Ovarian Cancer.
Paracchini L et al.
Cancers, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.
Sangree AK et al.
Nature Communications, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.
Arshad S et al.
Biochemical Genetics, 2021
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.
Turashvili G et al.
Cancers, 2020
Pan-cancer landscape of homologous recombination deficiency.
Nguyen L et al.
Nature Communications, 2020
Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy Resistance.
Pettitt SJ et al.
Cancer Discovery, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT et al.
Human Mutation, 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
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.
Vocka M et al.
Cancers, 2019
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Expressed HNSCC variants by HPV-status in a well-characterized Michigan cohort.
Qin T et al.
Scientific Reports, 2018
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2018
The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.
Lang GT et al.
International Journal of Cancer, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
The UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 2015
A guide for functional analysis of BRCA1 variants of uncertain significance.
Millot GA et al.
Human Mutation, 2012
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
Walsh T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.
Konecny M et al.
Breast Cancer Research and Treatment, 2011
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.
Eng C et al.
Journal of Medical Genetics, 2001
Denaturing gradient gel electrophoresis-based analysis of loss of heterozygosity distinguishes nonobvious, deleterious BRCA1 variants from nonpathogenic polymorphisms.
de La Hoya M et al.
Clinical Chemistry, 1999
Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers.
Rebbeck TR et al.
Journal of the National Cancer Institute, 1999
Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat.
Rebbeck TR et al.
American Journal of Human Genetics, 1999
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer.
Couch FJ et al.
The New England Journal of Medicine, 1997