BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.
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.
Frank
Bernd
B
Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany. b.frank@dkfz.de
Hemminki
Kari
K
Meindl
Alfons
A
Wappenschmidt
Barbara
B
Sutter
Christian
C
Kiechle
Marion
M
Bugert
Peter
P
Schmutzler
Rita K
RK
Bartram
Claus R
CR
Burwinkel
Barbara
B
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
D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; C000618935:BRIP1 protein, human; D020365:RNA Helicases