rs251796

A nested case-control study in the Nurses' Health Study examined associations between 39 SNPs in telomere-maintaining genes (TERT, TRF1, TRF2, TNKS2, POT1) and skin cancer risk in 803 cases (218 melanoma, 285 SCC, 300 BCC) and 870 controls. Two SNPs in TERT (rs2853676 [T] OR=1.43, rs2242652 [A] OR=1.50) and one in TRF1 (rs2981096 [G] OR=1.87) showed significant associations with melanoma risk. The rs401681[C] variant in TERT-CLPTM1L was replicated for melanoma risk (OR=0.73), and was associated with shorter telomere length.

This nested case-control study examined the association between relative telomere length and genetic variants in telomere maintenance genes (TERT, TNKS2, POT1, TERF1, TERF2) with endometrial cancer risk in 674 cases and 1,685 controls. Relative telomere length was not significantly associated with endometrial cancer risk (OR=1.20, 95% CI=0.73-1.96). However, variants rs2736122 in TERT (OR=1.18, 95% CI=1.01-1.38) and rs12412538 in TNKS2 (OR=1.16, 95% CI=1.00-1.34) showed elevated endometrial cancer risk, though these associations did not reach statistical significance after multiple comparisons correction.