BMC Cancer. 2007 May 15;7:83.

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

Frank B, Hemminki K, Meindl A, Wappenschmidt B, Sutter C, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B.

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Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany. b.frank@dkfz.de

Abstract

BACKGROUND:

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).

METHODS:

We investigated the effect of BRIP1 -64G>A and Pro919Ser on familial BC risk by means of TaqMan allelic discrimination, analysing BRCA1/BRCA2 mutation-negative index patients of 571 German BC families and 712 control individuals.

RESULTS:

No significant differences in genotype frequencies between BC cases and controls for BRIP1 -64G>A and Pro919Ser were observed.

CONCLUSION:

We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.

PMID:: 17504528; [PubMed - indexed for MEDLINE]
PMCID:: PMC1887536

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BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.
BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.
BMC Cancer. 2007 May 15 ;7:83.

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