Article
A Common Cancer Risk-Associated Allele in the hTERT Locus Encodes a Dominant Negative Inhibitor of Telomerase.
PLoS genetics - 1 Jun 2015
Killedar Anagha, Stutz Michael D, Sobinoff Alexander P, Tomlinson Christopher G, Bryan Tracy M, Beesley Jonathan, Chenevix-Trench Georgia, Reddel Roger R, Pickett Hilda A
Abstract excerpt
The TERT-CLPTM1L region of chromosome 5p15.33 is a multi-cancer susceptibility locus that encodes the reverse transcriptase subunit, hTERT, of the telomerase enzyme. Numerous cancer-associated single-nucleotide polymorphisms (SNPs), including rs10069690, have been identified within the hTERT gene. The minor allele (A) at rs10069690 creates an additional splice donor site in intron 4 of hTERT, and is associated...
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