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.

引用

页数：4

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