The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features

E. Barroso (1) , G. Pita (2) , J. I. Arias (3) , P. Menendez (4) , P. Zamora (5) , M. Blanco (5) , J. Benitez (1, 2) , G. Ribas (1, 6)

1 Human Genetics Group, Human Cancer Genetics Programme
2 National Genotyping Centre (CeGen), Human Cancer Genetics Programme
3 Service of Surgery
4 Department of Pathology
5 Department of Oncology
6 Human Genetics Group, Human Cancer Genetics Department

Fanconi anemia (FA) family of proteins participates in the DNA repair pathway by homologous recombination, and it is currently formed by 13 genes. Some of these proteins also confer susceptibility to hereditary breast and ovarian cancer (HBOC), since is the breast cancer susceptibility gene, and and explain 2% of non-BRCA1/2 HBOC families. Thus, there is an important connection between FA and BRCA pathways. In a previous case–control association study analysing , and , we reported an association between and sporadic breast cancer (BC) risk (OR = 1.35). In order to know whether variants in other FA genes could also be involved in this association, we have extended our study with the rest of FA genes and some others implicated in the BRCA pathway. We have also analyzed the correlation with survival, nodal metastasis and hormonal receptors (ER− and PR−). A total of 61 SNPs in ten FA genes (, , , , , , , , , ) and five FA related genes (, , , and ) were studied in a total of 547 consecutive and nonrelated sporadic BC cases and 552 unaffected controls from the Spanish population. Association analyses reported marginal statistically significant results with the minor allele of intronic SNPs in three genes: , , and . Survival association with SNPs on and genes were also reported. Sub-group analyses revealed associations between SNPs on and and nodal metastasis status and between and and PR− status.

Mots clés: Fanconi anemia; SNPs; Susceptibility; Breast cancer

E. Barroso, G. Pita, J. I. Arias, P. Menendez, P. Zamora, et al.. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. Breast Cancer Research and Treatment, 2009, 118 (3), pp.655-660. ⟨10.1007/s10549-009-0439-5⟩. ⟨hal-00535374⟩