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...

Descripción completa

Detalles Bibliográficos
Autores principales: Frank, Bernd, Hemminki, Kari, Meindl, Alfons, Wappenschmidt, Barbara, Sutter, Christian, Kiechle, Marion, Bugert, Peter, Schmutzler, Rita K, Bartram, Claus R, Burwinkel, Barbara
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1887536/
https://www.ncbi.nlm.nih.gov/pubmed/17504528
http://dx.doi.org/10.1186/1471-2407-7-83
Descripción
Sumario: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.

Ejemplares similares