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PMID: 26150619 已发表 · epublish 英语

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

BMJ case reports ·第 2015 卷 ·2016-05-23

Waisbren Julie, Uthe Regina, Siziopikou Kalliopi, Kaklamani Virginia

摘要

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.

文献信息
期刊
BMJ case reports
期刊简称
BMJ Case Rep
ISSN
1757-790X
发表日期
2016-05-23
收录日期
2015-07-07
更新日期
2015-07-07
语言
英语
国家/地区
England
NLM ID
101526291
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