Skip Navigation



Carcinogenesis Advance Access published online on May 5, 2006
Carcinogenesis, doi:10.1093/carcin/bgl062
This Article
Right arrow Advance Access manuscript (PDF) Freely available
Right arrow All Versions of this Article:
27/9/1930    most recent
bgl062v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Barroso, E.
Right arrow Articles by Ribas, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Barroso, E.
Right arrow Articles by Ribas, G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2006. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org
Received November 29, 2005
Revised April 18, 2006
Accepted April 19, 2006

CARCINOGENESIS

FANCD2 associated with sporadic breast cancer risk

E. Barroso 1, R. L. Milne 2, L. P. Fernández 1, P. Zamora 3, J. I. Arias 4, J. Benítez 5, and G. Ribas 1 *

1 Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain
2 National Genotyping Centre (CeGen), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain
3 Department of Oncology, La Paz Hospital, Madrid, Spain
4 Unit of Surgery, Monte Naranco Hospital, Oviedo, Spain
5 Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain; National Genotyping Centre (CeGen), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain

* To whom correspondence should be addressed.
G. Ribas, E-mail: gribas{at}cnio.es


  Abstract

Several components of the Fanconi anemia (FA) family of proteins allow the formation of the DNA repair complex foci formed by proteins such as BRCA1/2 and RAD51. Because the genes that participate in the DNA repair pathway have been described as low penetrance breast cancer susceptibility genes, we postulated that variants in FA genes could also be associated with sporadic breast cancer risk. We studied seven SNPs in FANCA, FANCL and FANCD2 in a total of 897 consecutive and non-related sporadic breast cancer cases and 1033 unaffected controls from the Spanish population. We observed a statistically significant association with sporadic breast cancer for the variant rs2272125 (L1366L) located on FANCD2 (OR=2.77; 95% C.I. 1.08-7.13; p=0.03). Both haplotype and diplotype analyses confirmed this association, where one haplotype and pooled diplotypes carrying it were associated with almost four-fold risk (p=0.007 and p=0.006, respectively). Screening for potential causal variants in FANCD2 was performed, detecting one in the putative promoter region, which is located in a phylogenetically conserved motif with consensus binding sites for some transcriptional factors, suggesting a functional implication. Our data indicate that a relationship between FANCD2 and sporadic breast cancer risk may exist.

Keywords: FANC gene family; polymorphisms; susceptibility; breast cancer.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Cancer Res.Home page
M. Berwick, J. M. Satagopan, L. Ben-Porat, A. Carlson, K. Mah, R. Henry, R. Diotti, K. Milton, K. Pujara, T. Landers, et al.
Genetic Heterogeneity among Fanconi Anemia Heterozygotes and Risk of Cancer
Cancer Res., October 1, 2007; 67(19): 9591 - 9596.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.