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

被引：29
|
作者：
Frank, Bernd [1 ]
Hemminki, Kari
Meindl, Alfons
Wappenschmidt, Barbara
Sutter, Christian
Kiechle, Marion
Bugert, Peter
Schmutzler, Rita K.
Bartram, Claus R.
Burwinkel, Barbara
机构：
[1] DKFZ, Helmholtz Univ Grp Mol Epidemiol, German Canc Res Ctr, Heidelberg, Germany
[2] DKFZ, Div Mol Genet Epidemiol, German Canc Res Ctr, Heidelberg, Germany
[3] Karolinska Inst, Ctr Family Med, Huddinge, Sweden
[4] Tech Univ Munich, Dept Obstet & Gynaecol, Klinikum Rechts Isar, D-8000 Munich, Germany
[5] Univ Cologne, Div Mol Gynaecooncol, Dept Obstet & Gynaecol, Ctr Clin, Cologne, Germany
[6] Univ Hosp Cologne, CMMC, Cologne, Germany
[7] Univ Heidelberg, Inst Human Genet, Heidelberg, Germany
[8] Univ Heidelberg, Fac Clin Med, Inst Transfus Med & Immunol, Red Cross Blood Serv Baden Wurttemberg Hessia, Mannheim, Germany
来源：
BMC CANCER | 2007年 / 7卷
关键词：
FANCONI-ANEMIA; BRCA1; SUSCEPTIBILITY; MUTATIONS; GENES; BRIP1/BACH1; PROTEIN; REPAIR;
D O I：
10.1186/1471-2407-7-83
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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.
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页数：4
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