Associated Papers
Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants.
Santamariña M et al.
Clinical Chemistry, 2026
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 › 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_TableS2.xlsx › BRCA1
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table
BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
Mehemmai C et al.
Pathology Oncology Research : Por, 2020
Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.
Wangensteen T et al.
Hereditary Cancer in Clinical Practice, 2019
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Wappenschmidt B et al.
Plos One, 2012
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