BMC Cancer (May 2007)

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

  • Bugert Peter,
  • Kiechle Marion,
  • Sutter Christian,
  • Wappenschmidt Barbara,
  • Hemminki Kari,
  • Meindl Alfons,
  • Frank Bernd,
  • Schmutzler Rita K,
  • Bartram Claus R,
  • Burwinkel Barbara

DOI
https://doi.org/10.1186/1471-2407-7-83
Journal volume & issue
Vol. 7, no. 1
p. 83

Abstract

Read online

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.