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

• Published in: BMC cancer 2007-05, Vol.7 (1), p.83-83, Article 83
• Main Authors: Frank, Bernd, Hemminki, Kari, Meindl, Alfons, Wappenschmidt, Barbara, Sutter, Christian, Kiechle, Marion, Bugert, Peter, Schmutzler, Rita K, Bartram, Claus R, Burwinkel, Barbara
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Breast cancer; 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 aspects; Genetic Predisposition to Disease; Genetic Variation - genetics; Genotype; Humans; Medicin och hälsovetenskap; Middle Aged; Mutation; Risk Factors; RNA Helicases - genetics
• ISSN: 1471-2407; 1471-2407
• DOI: 10.1186/1471-2407-7-83

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). 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. No significant differences in genotype frequencies between BC cases and controls for BRIP1 -64G>A and Pro919Ser were observed. We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.