title: BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.
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.
  
  
  CONCLUSIONS
  We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.
authors.affiliation: Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany. b.frank@dkfz.de
authors.forename: Bernd
authors.initials: B
authors.lastname: Frank
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
authors.forename: Alfons
authors.initials: A
authors.lastname: Meindl
authors.forename: Barbara
authors.initials: B
authors.lastname: Wappenschmidt
authors.forename: Christian
authors.initials: C
authors.lastname: Sutter
authors.forename: Marion
authors.initials: M
authors.lastname: Kiechle
authors.forename: Peter
authors.initials: P
authors.lastname: Bugert
authors.forename: Rita K
authors.initials: RK
authors.lastname: Schmutzler
authors.forename: Claus R
authors.initials: CR
authors.lastname: Bartram
authors.forename: Barbara
authors.initials: B
authors.lastname: Burwinkel
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005199:Fanconi Anemia / Q000453:epidemiology / Q000235:genetics; D051856:Fanconi Anemia Complementation Group Proteins; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D020365:RNA Helicases / Q000235:genetics*; D012307:Risk Factors
chemical_list: D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; C000618935:BRIP1 protein, human; D020365:RNA Helicases