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A rare variant P507L in TPP1 interrupts TPP1–TIN2 interaction, influences telomere length, and confers colorectal cancer risk in Chinese population

Cancer Epidemiology, Biomarkers & Prevention Aug 22, 2018

Li J, et al. - Given that, telomere dysfunction triggers cellular senescence and drives cancer initiation, researchers investigated the possible contribution of genetic variants in genes involved in telomere maintenance to colorectal cancer susceptibility. They performed sequencing of the coding regions of 13 core components implicated in telomere biology in 192 patients with colorectal cancer in order to capture the germline mutations. Thereafter, they genotyped five potential functional variants and evaluated in a case–control set with 3,761 colorectal cancer cases and 3,839 healthy controls. Findings revealed that, via interrupting TPP1–TIN2 interaction, impairing telomerase processivity, and shrinking telomere length, increased risk of colorectal cancer was conferred by a rare variant P507L in TPP1.
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