rs2066786

This dissertation investigated sex differences in melanoma using Connecticut Tumor Registry and Minnesota Skin Health study cohorts. Multiple SNPs in DNA repair genes (RFC1, ERCC4, ERCC5, ERCC6, PARP1, FBRSL1) and immune response genes (SMAD3, CXCL8, IFNγ, IL-17A) were associated with Breslow thickness and interacted with UV exposure to modify melanoma progression. Notably, rs4253114 (ERCC6) was the only SNP significant in both male and female sex-stratified analyses. UV exposure showed opposite effects between sexes: inversely associated with male mortality (HR 0.5-0.9 range) but not associated with female survival; skin awareness reduced Breslow thickness in females but not males.

This candidate gene association study examined 16 DNA repair gene polymorphisms in 94 patients with metastatic colorectal cancer treated with oxaliplatin-based chemotherapy. The MGMT -535G>T polymorphism (rs1625649) was found to be significantly associated with progression-free survival (PFS) (p=0.076 in univariate analysis), with TT genotype showing improved prognosis compared to GG/GT genotypes (HR=3.137, p=0.005 in multivariate analysis). Several other polymorphisms in DNA repair genes were evaluated for associations with chemotherapy response and survival outcomes.