Article
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.
Scientific reports - 31 May 2021
Wiik Mariann Unhjem, Evans Tiffany-Jane, Belhadj Sami, Bolton Katherine A, Dymerska Dagmara, Jagmohan-Changur Shantie, Capellá Gabriel, Kurzawski Grzegorz, Wijnen Juul T, Valle Laura, Vasen Hans F A, Lubinski Jan, Scott Rodney J, Talseth-Palmer Bente A
Abstract excerpt
Individuals with Lynch syndrome (LS), have an increased risk of developing cancer. Common genetic variants of telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS. We combined genotype data from 1881 LS patients, carrying pathogenic variants in MLH1, MSH2 or MSH6, for rs2075786 (G>A, intronic variant), 1207 LS patients for rs2736108...
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