Associated Papers
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.
Al Ali AAAA et al.
Journal of Cancer Research and Clinical Oncology, 2025
40257527 (PubMed )
Supplement: 432_2025_6188_MOESM1_ESM.xlsx › Cancer_Cohort
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
36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA2
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2
Spectrum of Pathogenic Germline Mutations in Chinese Lung Cancer Patients through Next-Generation Sequencing.
Tian P et al.
Pathology Oncology Research : Por, 2020
Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.
Diop JPD et al.
Bmc Medical Genetics, 2019
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