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BRCA 1/2 gene mutation and gastrointestinal stromal tumours: a potential association
  1. Julie Waisbren1,
  2. Regina Uthe2,
  3. Kalliopi Siziopikou3,
  4. Virginia Kaklamani2
  1. 1Department of Medicine, Northwestern University, Chicago, Illinois, USA
  2. 2Department of Hematology/Oncology, Northwestern University, Chicago, Illinois, USA
  3. 3Department of Pathology, Northwestern University, Chicago, Illinois, USA
  1. Correspondence to Dr Julie Waisbren, julie.waisbren{at}


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.

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