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

Abstract

International audienceFanconi 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

Expression of FANCD2 in sporadic breast cancer and clinicopathological analysis

“…Though the loss of expression of PTEN, P53, ATM and CHK2 genes had been identified to correlate with some sporadic breast cancers, they neither have specificity in diagnosis nor can provide clinical therapeutic guidance [9][10][11][12] . In recent study, it was found that 19% sporadic breast cancers lost the expression of FANCD2 gene, which suggested that FANCD2 may be an independent prognostic factor for sporadic breast cancer [13,14] .…”

Effect of ATM–111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis

“…Finally, 20 case-control studies were discerned. However, three studies were excluded because of insufficient data (Barroso et al, 2009;Rendleman et al, 2014;Hayashi et al, 2015). Two studies used the same data, so only one of them was included (Pharoah et al, 2007;Yang et al, 2014).…”

Evaluation of Genetic Variations in miRNA-Binding Sites of BRCA1 and BRCA2 Genes as Risk Factors for the Development of Early-Onset and/or Familial Breast Cancer

“…As the majority of these miRNAs binds to the 3'UTR region of the genes (Sehl et al, 2009), variations in the 3'UTR regions of BRCA1/2 may also affect the regulation of related proteins and thus response to the applied therapy (Nilsen, 2007). In addition, the importance of miRNA-binding site single-nucleotide polymorphisms (SNPs) of the BRCA1/2 genes in breast and ovarian cancer has been emphasized in recent studies of certain individual populations (Barroso et al, 2009;Pongsavee et al, 2009;Sehl et al, 2009;Kontorovich et al, 2010;Nicoloso et al, 2010;Joseph et al, 2011). However, knowledge about the effect of 3'UTR site variations of BRCA1/2 remains elusive.…”