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Comparative Study
. 2007 May 15:7:83.
doi: 10.1186/1471-2407-7-83.

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

Bernd Frank  1 , Kari Hemminki, Alfons Meindl, Barbara Wappenschmidt, Christian Sutter, Marion Kiechle, Peter Bugert, Rita K Schmutzler, Claus R Bartram, Barbara Burwinkel
Affiliations
Comparative Study

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

Bernd Frank et al. BMC Cancer. .

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.

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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References

    1. Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002;108:171–182. doi: 10.1016/S0092-8674(02)00615-3. - DOI - PubMed
    1. Meindl A, the German Consortium for Hereditary Breast and Ovarian Cancer Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer. 2002;97:472–480. doi: 10.1002/ijc.1626. - DOI - PubMed
    1. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DC, Sgroi DC, Lane WS, Haber DA, Livingston DM. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001;105:149–160. doi: 10.1016/S0092-8674(01)00304-X. - DOI - PubMed
    1. Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S, Livingston DM. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci USA. 2004;101:2357–2362. doi: 10.1073/pnas.0308717101. - DOI - PMC - PubMed
    1. Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet. 2005;37:931–933. doi: 10.1038/ng1624. - DOI - PubMed

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