Breast cancer is the most frequent cancer affecting women all over the world and its susceptibility is conferred by multigenic variations of the genome. Mammalian alpha B-crystallin (CRYAB) is a member of the small heat-shock protein family and a molecular chaperone continuously expressed in various tissues. CRYAB gene, encodes a major structure protein of the lens that can function as a molecular chaperon, has been identified as a tumor suppressor gene in several types of cancer, including breast cancer. However, the association of their genotypes and cancer risk is seldom studied. In this study, 40 samples from breast cancer patients and 20 samples of healthy people were genotyped via polymerase chain reaction and sequencing. Then, the association of C802G (rs14133) and intron2 (rs2070894) polymorphisms with breast cancer risk was investigated. The results found that, those individuals with CRYAB C802G CG and GG genotypes have a significant increase risk for breast cancer than those with the CC genotype. As for intron2 polymorphisms, there was no significant association of the genotype with breast cancer risk. In allelic frequency analysis, the G allele CRYAB C-802G conferred a significantly (p=21×10–7) increased risk of breast cancer. The results provided that the G allele of CRYAB C802G is correlated with breast cancer risk and Single Nucleotide Polymorphism (SNPs) of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.
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