ArticleEuropean journal of human genetics : EJHG2011
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis.Familial cancer · 2018Pooled it
- Associations between CYP1A1 rs1048943 A > G and rs4646903 T > C genetic variations and colorectal cancer risk: Proof from 26 case-control studies.Oncotarget · 2016Pooled it
- Guideline
- Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying theBiomedicines · 2024Article
- A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.Scientific reports · 2021Article
- Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.Cancers · 2019Article
- SNP association study in PMS2-associated Lynch syndrome.Familial cancer · 2018Article
- The polymorphisms of miRNA-binding site in MLH3 and ERCC1 were linked to the risk of colorectal cancer in a case-control study.Cancer medicine · 2018Article
- Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.Hereditary cancer in clinical practice · 2016Article
- Article
- Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.Genes & cancer · 2015Review
- A model to determine colorectal cancer risk using common genetic susceptibility loci.Gastroenterology · 2015Article
- Genetic modifiers of cancer risk in Lynch syndrome: a review.Familial cancer · 2013Review
- Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?European journal of cancer (Oxford, England : 1990) · 2013Article
- Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.European journal of human genetics : EJHG · 2013Article
- 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome.European journal of human genetics : EJHG · 2012Article
- Anticipation in lynch syndrome: where we are where we go.Current genomics · 2011Article
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several studies have reported that, in Lynch syndrome resulting from mutations of the mismatch repair (MMR) genes, a CA repeat ≤17 within the IGF1 promoter, SNPs within the xenobiotic metabolizing enzyme gene CYP1A1 and SNPs on 8q23.3 and 11q23.1 modify colorectal cancer (CRC) risk in MMR mutation carriers. We analysed the impact of these polymorphisms on CRC risk in 748 French MMR mutation carriers derived from 359 families. We also analysed the effect of the Novel 1 SNP (18q21), which has recently been shown to increase CRC risk in the general population. We observed a significant difference in the CRC-free survival time between males and females, between MSH2 and MSH6 mutation carriers and between MLH1 and MSH6, indicating that this series is representative of Lynch syndrome. In contrast, the univariate log-rank test, as well as multivariate Cox model analysis controlling for familial aggregation and mutated MMR gene, year of birth and gender showed that the polymorphic alleles tested were not associated with a significant CRC risk increase, neither on the entire sample nor among males and females. This discrepancy with previous reports might be explained both by the genetic heterogeneity between the different populations analysed and the allelic heterogeneity of the MMR mutations. We conclude that genotyping of these polymorphisms is not useful to evaluate CRC risk in MMR mutation carriers and to optimize their clinical follow-up.
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