BRCA2 NM_000059.4:c.7673_7674del, Glu2558ValfsTer7

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Error in OpenAI Consolidation. OncoKB: BRCA2E2558Vfs*7BRCA2E2558Vfs*7SomaticNCBI Gene:675|Show additional gene information Variant OverviewBRCA2, a tumor suppressor involved in the DNA damage response, is mutated in various cancer types.The BRCA2 E2558Vfs*7 is a truncating mutation in a tumor suppressor gene, and therefore is likely oncogenic.Hide mutation effect description The mutation effect description for truncating mutations in BRCA2 is: Truncating mutations of BRCA2 can produce several forms of C-terminally truncated BRCA2 proteins. Protein domains that are deleted in BRCA2 truncating mutations include the C-terminal DNA binding domain, the nuclear localization signal and the CDK2 phosphorylation site, the latter which binds RAD51 (PMID: 20878484, 24312913). Experimental studies have shown that truncating mutations impair nuclear localization of BRCA2, essential for normal BRCA2 function (PMID: 10570174). BRCA2 is essential for maintaining the integrity of homologous recombination during DNA damage response (PMID: 11239455). Inactivating or truncating mutations of this gene are associated with a significant increase in lifetime risk for the development of breast, ovarian, prostate or pancreatic cancers (PMID: 22193408). JAX-CKB: No results found