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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 (C>T, upstream variant) and 1201 LS patients for rs7705526 (C>A, intronic variant). The risk of cancer was estimated by heterozygous/homozygous odds ratio (OR) with mixed-effects logistic regression to adjust for gene/gender/country of sample origin considering family identity. The AA genotype of SNP rs2075786 is associated with 85% higher odds at developing cancer compared to GG genotype in  MSH2  pathogenic variant carriers ( p  = 0.0160). Kaplan–Meier analysis also shows an association for rs2075786; the AA allele for  MSH2  variant carriers confers risk for earlier diagnosis of LS cancer (log-rank  p  = 0.0011). We report a polymorphism in  TERT  to be a possible modifier of disease risk in  MSH2  pathogenic variant carriers. The rs2075786 SNP in  TERT  is associated with a differential risk of developing cancer for  MSH2  pathogenic variant carriers. Use of this information has the potential to personalise screening protocols for LS patients.

A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants