Literature DB >> 26150619

BRCA 1/2 gene mutation and gastrointestinal stromal tumours: a potential association.

Julie Waisbren1, Regina Uthe2, Kalliopi Siziopikou3, Virginia Kaklamani2.   

Abstract

Mutations of the BRCA1/2 genes have been described in association with a number of malignancies including cancers of the breast, ovary, prostate and stomach, but have never been described in relation to gastrointestinal stromal tumours (GIST). We describe a patient with a BRCA2 8642del3insC mutation who developed prostate cancer, breast cancer and GIST. GIST has been shown to be associated with a number of malignancies, including some of the common BRCA1/2-related cancers, but it has never been associated with BRCA1/2 gene mutations. This report highlights the potential association between BRCA1/2 mutations and GIST, and aims to raise awareness for further genetic screening in GIST patients. 2015 BMJ Publishing Group Ltd.

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Year:  2015        PMID: 26150619      PMCID: PMC4493214          DOI: 10.1136/bcr-2014-208830

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  37 in total

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