Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
作者： Thorunn Rafnar , Patrick Sulem , Simon N Stacey , Frank Geller , Julius Gudmundsson
DOI: 10.1038/NG.296
关键词:
摘要: The common sequence variants that have recently been associated with cancer risk are particular to a single type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found rs401681[C] chromosome 5p15.33 satisfied threshold for significance (OR = 1.25, P 3.7 x 10(-12)). We tested rs401681 association 16 additional types in over 30,000 cases and 45,000 controls lung 1.15, 7.2 10(-8)) urinary bladder, prostate cervix (ORs 1.07-1.31, all < 4 10(-4)). However, seems confer protection against cutaneous melanoma 0.88, 8.0 Notably, these strong environmental component their risk. Investigation the region led us rs2736098[A], which showed stronger some types. neither variant could fully account other. rs2736098 corresponds A305A telomerase reverse transcriptase (TERT) protein is an intron CLPTM1L gene.
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