Association between polymorphism within the susceptibility region 8q24 and breast cancer in a Iranian population

Some cancer-associated SNPs are located in chromosomal regions that do not encode genes. One such SNP is rs13281615 at 8q24.21, whose association with breast cancer risk has beenconfirmed in a number of studies in different ethnic groups.The q24 band of chromosome 8 (8q24) is frequently amplified in human cancers including breast cancer, and several SNPs (single nucleotide polymorphisms) at 8q24, including rs13281615, have been identified for their association with cancer risks.Easton et al. firstly identified a significant association between rs13281615 (8q24.21) and BC risk through a three-staged GWA study in a European population.Although these risk alleles are located in a gene desert, accumulating evidence supports the notion that these 8q24 genetic variants may affect MYC oncogene expression by altering its regulation or amplification status. The protooncogene MYC functions as a transcriptional activator. It is involved in a complex regulatory network modulating cell growth, differentiation, apoptosis, and other cellular responses.At this SNP, the G-allele is the risk allele for breast cancer while the AA genotype has a protective effect (Gong et al., 2013).The GG genotype at SNP rs13281615 was associated withestrogen receptor (ER) positivity, progesterone receptor (PR) positivity, lower tumor grade, and improved patient survival in previous studies (Garcia-Closas et al., 2008; Broeks et al., 2011), further suggesting a function of this SNP in breast cancer development.We will genotype one 8q24 SNP ( rs13281615) identified fromRecent publications to examine their relationships with BC risk among aIranian population.

Keywords:

Breast cancer , SNP , 8q24 , MYC