Journal article

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Aung Ko Win, Mark Clendenning, William Crawford, Christophe Rosty, Susan G Preston, Melissa C Southey, Susan Parry, Graham G Giles, Finlay A Macrae, Ingrid M Winship, John A Baron, John L Hopper, Mark A Jenkins, Daniel D Buchanan

Genes Cancer | Published : 2015


Lynch syndrome is an inherited cancer-predisposing disorder caused by germline mutations in the DNA mismatch repair (MMR) genes but there is a high degree of variability in cancer risk observed among carriers, suggesting the existence of modifying factors. Our aim was to investigate variants within the hTERT gene as a potential colorectal cancer (CRC) risk modifier for MMR gene mutation carriers. We identified 1098 MMR gene mutation carriers (420 MLH1, 481 MSH2, 126 MSH6, 53 PMS2 and 18 EPCAM) from 330 families recruited from either family cancer clinics or population cancer registries of the Australasian Colorectal Cancer Family Registry between 1997 and 2012. Using weighted Cox regression ..

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