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...

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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
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author Frank, Bernd
Hemminki, Kari
Meindl, Alfons
Wappenschmidt, Barbara
Sutter, Christian
Kiechle, Marion
Bugert, Peter
Schmutzler, Rita K
Bartram, Claus R
Burwinkel, Barbara
author_facet Frank, Bernd
Hemminki, Kari
Meindl, Alfons
Wappenschmidt, Barbara
Sutter, Christian
Kiechle, Marion
Bugert, Peter
Schmutzler, Rita K
Bartram, Claus R
Burwinkel, Barbara
author_sort Frank, Bernd
collection PubMed
description 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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spelling pubmed-18875362007-06-05 BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study Frank, Bernd Hemminki, Kari Meindl, Alfons Wappenschmidt, Barbara Sutter, Christian Kiechle, Marion Bugert, Peter Schmutzler, Rita K Bartram, Claus R Burwinkel, Barbara BMC Cancer Research Article 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. BioMed Central 2007-05-15 /pmc/articles/PMC1887536/ /pubmed/17504528 http://dx.doi.org/10.1186/1471-2407-7-83 Text en Copyright © 2007 Frank et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Frank, Bernd
Hemminki, Kari
Meindl, Alfons
Wappenschmidt, Barbara
Sutter, Christian
Kiechle, Marion
Bugert, Peter
Schmutzler, Rita K
Bartram, Claus R
Burwinkel, Barbara
BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
title BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
title_full BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
title_fullStr BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
title_full_unstemmed BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
title_short BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
title_sort brip1 (bach1) variants and familial breast cancer risk: a case-control study
topic Research Article
url 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
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