BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

<p>Abstract</p> <p>Background</p> <p>Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC)....

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Bibliographic Details
Main Authors: Bugert Peter, Kiechle Marion, Sutter Christian, Wappenschmidt Barbara, Hemminki Kari, Meindl Alfons, Frank Bernd, Schmutzler Rita K, Bartram Claus R, Burwinkel Barbara
Format: Article
Language:English
Published: BMC 2007-05-01
Series:BMC Cancer
Online Access:http://www.biomedcentral.com/1471-2407/7/83
Description
Summary:<p>Abstract</p> <p>Background</p> <p>Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC).</p> <p>Methods</p> <p>We investigated the effect of BRIP1 -64G>A and Pro919Ser on familial BC risk by means of TaqMan allelic discrimination, analysing <it>BRCA1/BRCA2 </it>mutation-negative index patients of 571 German BC families and 712 control individuals.</p> <p>Results</p> <p>No significant differences in genotype frequencies between BC cases and controls for BRIP1 -64G>A and Pro919Ser were observed.</p> <p>Conclusion</p> <p>We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.</p>
ISSN:1471-2407

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