Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study
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DOI: 10.1002/cam4.70443
Abstract: Germline mutations in BRCA1/2 are known to cause hereditary tumors in the breast, ovary, and other organs. With the widespread adoption of comprehensive diagnostics, including comprehensive genomic profiling (CGP) tests for solid tumors, many patients… read more here.
Keywords: brca1 brca2; regional differences; brca2 variants; differences frequency ... See more keywords
Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants
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DOI: 10.3390/cancers13040881
Abstract: Simple Summary The potential pathogenic role of germline BRCA2 c.9976A>T and c.10095delinsGAATTATATCT was evaluated in hereditary breast and ovarian cancer (HBOC) patients by investigating 2491 probands and verified in an independent cohort of 122,209 patients.… read more here.
Keywords: brca2 variants; risk; brca2; cancer ... See more keywords
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants
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DOI: 10.3390/genes13040697
Abstract: Abstract Background: Detecting pathogenic intronic variants resulting in aberrant splicing remains a challenge in routine genetic testing. We describe germline whole-exome sequencing (WES) analyses and apply in silico predictive tools of familial ovarian cancer (OC)… read more here.
Keywords: brca1 brca2; clinically negative; brca1; brca2 variants ... See more keywords