ArticleEuropean journal of human genetics : EJHG2013
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.Cancer medicine · 2019Pooled it
- Intratumoural pksEBioMedicine · 2025Article
- Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying theBiomedicines · 2024Article
- Characterization of blood-derived exosomal hTERT mRNA as a biomarker for colon cancer and Lynch syndrome.Frontiers in oncology · 2022Article
- A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.Scientific reports · 2021Article
- Correlation of human telomerase reverse transcriptase single nucleotide polymorphisms with in vitro fertilisation outcomes.Journal of assisted reproduction and genetics · 2019Article
- Genetic anticipation in Swedish Lynch syndrome families.PLoS genetics · 2017Article
- The genetics and molecular biology of colonic neoplasia: practical implications for the clinician.Current opinion in gastroenterology · 2017Review
- hTERT gene polymorphism correlates with the risk and the prognosis of thyroid cancer.Cancer biomarkers : section A of Disease markers · 2016Article
- Article
- Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.Genes & cancer · 2015Review
- Genetic predisposition to colorectal cancer: where we stand and future perspectives.World journal of gastroenterology · 2014Review
- History, genetics, and strategies for cancer prevention in Lynch syndrome.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2014Review
- Genetic modifiers of cancer risk in Lynch syndrome: a review.Familial cancer · 2013Review
- Telomere length and genetic anticipation in Lynch syndrome.PloS one · 2013Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome (LS) is an inherited cancer-predisposing disorder caused by germline mutations in the mismatch repair (MMR) genes. The high variability in individual cancer risk observed among LS patients suggests the existence of modifying factors. Identifying genetic modifiers of risk could help implement personalized surveillance programs based on predicted cancer risks. Here we evaluate the role of the telomerase (hTERT) rs2075786 SNP as a cancer-risk modifier in LS, studying 255 and 675 MMR gene mutation carriers from Spain and the Netherlands, respectively. The study of the Spanish sample revealed that the minor allele (A) confers increased cancer risk at an early age. The analysis of the Dutch sample confirmed the association of the A allele, especially in homozygosity, with increased cancer risk in mutation carriers under the age of 45 (relative riskLSca<45_AA=2.90; 95% confidence interval=1.02-8.26). Rs2075786 is associated with colorectal cancer (CRC) risk neither in the general population nor in non-Lynch CRC families. In silico studies predicted that the SNP causes the disruption of a transcription binding site for a retinoid receptor, retinoid X receptor alpha, probably causing early telomerase activation and therefore accelerated carcinogenesis. Notably, cancer-affected LS patients with the AA genotype have shorter telomeres than those with GG. In conclusion, MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age. Cancer-preventive measures and stricter cancer surveillance at early ages might help prevent or early detect cancer in these mutation carriers.
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