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

BMC Cancer. 2007 May 15:7:83. doi: 10.1186/1471-2407-7-83.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • DNA-Binding Proteins / genetics*
  • Fanconi Anemia / epidemiology
  • Fanconi Anemia / genetics
  • Fanconi Anemia Complementation Group Proteins
  • Genetic Predisposition to Disease*
  • Genetic Variation / genetics*
  • Genotype
  • Humans
  • Middle Aged
  • Mutation
  • RNA Helicases / genetics*
  • Risk Factors


  • DNA-Binding Proteins
  • Fanconi Anemia Complementation Group Proteins
  • BRIP1 protein, human
  • RNA Helicases