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

Julie Waisbren; Regina Uthe; Kalliopi Siziopikou; Virginia Kaklamani

doi:10.1136/bcr-2014-208830

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

Julie Waisbren^*, Regina Uthe, Kalliopi Siziopikou, Virginia Kaklamani

^*Corresponding author for this work

Pathology

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English (US)
Journal	BMJ case reports
Volume	2015
DOIs	https://doi.org/10.1136/bcr-2014-208830
State	Published - Jul 6 2015

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General Medicine

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10.1136/bcr-2014-208830

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title = "BRCA 1/2 gene mutation and gastrointestinal stromal tumours: A potential association",

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.",

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T1 - BRCA 1/2 gene mutation and gastrointestinal stromal tumours

T2 - A potential association

AU - Waisbren, Julie

AU - Uthe, Regina

AU - Siziopikou, Kalliopi

AU - Kaklamani, Virginia

PY - 2015/7/6

Y1 - 2015/7/6

N2 - 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.

AB - 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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VL - 2015

JO - BMJ case reports

JF - BMJ case reports

ER -

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

Abstract

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UN SDGs

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