Associated Papers
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1
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 › BRCA1
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
Ercoskun P et al.
Molecular Syndromology, 2022
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Díez O et al.
Human Mutation, 2003
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