Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants
Sign Up to like & getrecommendations! Published in 2021 at "Cancers"
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
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
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