A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer

Exposure to UV radiation is a major risk factor for the development of mali gnant melanoma, DNA damage caused by UV radiation is thought to play a majo r role in carcinogenesis induction, Multiprotein pathways involved in repai ring UV-DNA damage are the base excision, the nucleotide excision, and the homologous double-stranded DNA repair pathways. This study used a sequence- specific primer PCR (PCR-SSP) genotyping method to investigate the associat ion between polymorphisms in DNA repair genes from these pathways with the development of malignant melanoma, The patient cohort was comprised of 125 individuals with malignant melanoma with lesions or staging suggesting a hi gh risk of relapse or metastatic disease. The control population consisted of 211 individuals. We found the presence of a T allele in exon 7 (position 18067) of the XRCC3 gene was significantly associated with melanoma develo pment (P = 0.004; odds ratio, 2.36; relative risk, 1.74), This gene codes f or a protein involved in the homologous pathway of double-stranded DNA repa ir, thought to repair chromosomal fragmentation, translocations, and deleti ons, These results may provide further insights into the pathogenesis and t he mechanism of UV-radiation induced carcinogenesis as well as having a rol e in prevention.