ArticleEuropean journal of cancer (Oxford, England : 1990)2013
Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
Article in European journal of cancer (Oxford, England : 1990), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 4 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 4 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Variation rs9929218 and risk of the colorectal Cancer and adenomas: A meta-analysis.BMC cancer · 2021Pooled it
- 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
- Common variation rs6983267 at 8q24.1 and risk of colorectal adenoma and cancer: evidence based on 31 studies.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Pooled it
- Universal Tumor Screening in Colorectal Cancer: Role of MMR Immunohistochemistry for Lynch Syndrome and Early-Onset CRC.Cancers · 2026Article
- A New Inverse Probability of Selection Weighted Cox Model to Deal With Outcome-Dependent Sampling in Survival Analysis.Biometrical journal. Biometrische Zeitschrift · 2025Article
- Breast and bowel cancers diagnosed in people 'too young to have cancer': A blueprint for research using family and twin studies.Genetic epidemiology · 2024Article
- Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying theBiomedicines · 2024Article
- Association of four genetic variants with colorectal cancer in Kazakhstan population.Oncotarget · 2021Article
- Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.Frontiers in oncology · 2020Article
- Genetic Variants in DNA Mismatch Repair Pathway predict prognosis of Lung Cancer patients with receiving Platinum-Based Chemotherapy.Journal of Cancer · 2020Article
- Cancer Risks for PMS2-Associated Lynch Syndrome.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018Article
- SNP association study in PMS2-associated Lynch syndrome.Familial cancer · 2018Article
- Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC).International journal of epidemiology · 2018Article
- Association between 8q24 rs6983267 polymorphism and cancer susceptibility: a meta-analysis involving 170,737 subjects.Oncotarget · 2017Article
- Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2017Article
- Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese.Oncotarget · 2016Article
- Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.Familial cancer · 2015Article
- 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
Corrections and comments
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Authors and funding
20 authors at 16 institutions in 5 countries.
Funding
Abstract
backgroundGenome-wide association studies have identified at least 15 independent common genetic variants associated with colorectal cancer (CRC) risk. The aim of this study was to investigate whether 11 of these variants are associated with CRC risk for carriers of germline mutations in DNA mismatch repair (MMR) genes.
methodsA total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3). We used a weighted Cox regression to estimate CRC risk for homozygous and heterozygous carriers of the risk allele compared with homozygous non-carriers as well as for an additive per allele model (on the log scale).
resultsOver a total of 40,978 person-years observation, 426 (46%) carriers were diagnosed with CRC at a mean age of 44.3 years. For all carriers combined, we found no evidence of an association between CRC risk and the total number of risk alleles (hazard ratio [HR] per risk allele=0.97, 95% confidence interval [CI]=0.88-1.07, p=0.52).
conclusionsWe found no evidence that the SNPs associated with CRC in the general population are modifiers of the risk for MMR gene mutation carriers overall, and therefore any evidence of proven clinical utility in Lynch syndrome.
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