Associated Papers
Reclassifying BRCA1 c.4358-2A > G and BRCA2 c.475 + 5G > C variants from "Uncertain Significance" to "Pathogenic" based on minigene assays and clinical evidence.
Ning Y et al.
Journal of Cancer Research and Clinical Oncology, 2024
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-s010.xlsx › Asian_MNS_both
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.
Dong Z et al.
Journal of Human Genetics, 2023
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
Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.
Bouras A et al.
Genes, 2021
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
Chian J et al.
Frontiers in Molecular Biosciences, 2021
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Wappenschmidt B et al.
Geburtshilfe Und Frauenheilkunde, 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
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
Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.
Krivokuca A et al.
Familial Cancer, 2018
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
Heramb C et al.
Hereditary Cancer in Clinical Practice, 2018
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Quiles F et al.
Breast Cancer Research and Treatment, 2016
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