Associated Papers
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Ramadane-Morchadi L et al.
American Journal of Human Genetics, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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.
Caleca L et al.
Frontiers in Oncology, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.
Sangree AK et al.
Nature Communications, 2022
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 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
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
Huang C et al.
Genome Biology, 2021
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
Chian J et al.
Frontiers in Molecular Biosciences, 2021
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
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
Maistro S et al.
Bmc Cancer, 2016
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
Kuo WH et al.
Journal of Human Genetics, 2012
Mutation screening of the BRCA1 gene in sporadic breast cancer in southern Chinese populations.
Haitian Z et al.
Breast (edinburgh, Scotland), 2008
BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
Toh GT et al.
Plos One, 2008
BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.
Ang P et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia.
Torres D et al.
Breast Cancer Research and Treatment, 2007
[Study of BRCA1 and BRCA2 gene mutations in human sporadic breast cancers].
Zhang HT et al.
Zhonghua Wai Ke Za Zhi [chinese Journal of Surgery], 2007
Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.
Han SH et al.
Clinical Genetics, 2006
Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.
Kim BY et al.
Biochemical and Biophysical Research Communications, 2006
[Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer].
Song CG et al.
Zhonghua Wai Ke Za Zhi [chinese Journal of Surgery], 2006
The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer.
Song CG et al.
Journal of Cancer Research and Clinical Oncology, 2006
[BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China].
Song CG et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants.
Elstrodt F et al.
Cancer Research, 2006
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).
Infante M et al.
Journal of Human Genetics, 2006
BRCA1 variants in a family study of African-American and Latina women.
McKean-Cowdin R et al.
Human Genetics, 2005
Familial breast and ovarian cancers.
Arai M et al.
International Journal of Clinical Oncology, 2004
Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore.
Lee AS et al.
Human Mutation, 2003
BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.
Zhi X et al.
Human Mutation, 2002
Novel germline BRCA1 mutations detected in women in singapore who developed breast carcinoma before the age of 36 years.
Ho GH et al.
Cancer, 2000
Mutation analysis of BRCA1, TP53, and KRAS2 in ovarian and related pelvic tumors.
Tworek H et al.
Cancer Genetics and Cytogenetics, 1999
BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history.
Malone KE et al.
Jama, 1998