Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
Article in Breast Cancer Research (January 2024)
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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
Article in BMC Cancer (April 2023)
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
Article in British Journal of Cancer (April 2023)