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

Julie Waisbren, Regina Uthe, Kalliopi Siziopikou, Virginia Kaklamani

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageEnglish (US)
JournalBMJ case reports
StatePublished - Jul 6 2015
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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