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The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

Genetic Association Study in 18,723 Individuals
Authors: Abuli, A.; Bujanda, L.; Munoz, J.; Buch, S.; Schafmayer, C.; Maiorana, M.V.; Veneroni, S.; +21 Authors

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

Abstract

Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance", being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.

Keywords

tumors, Male, BIOCHEMISTRY AND MOLECULAR BIOLOGY, Epidemiology, HEREDITARY, Cohort Studies, INDEL Mutation, lynch syndrome, Malalties hereditàries, Molecular genetics, Càncer -- Aspectes genètics, risk, Mismatch Repair Endonuclease PMS2, RISK, Adenosine Triphosphatases, LYNCH SYNDROME, Q, R, Nuclear Proteins, TUMORS, DNA-Binding Proteins, MutS Homolog 2 Protein, classification, AGRICULTURAL AND BIOLOGICAL SCIENCES, Còlon -- Càncer, Medicine, Female, Colorectal Neoplasms, MutL Protein Homolog 1, hereditary, metaanalysis, Genetic diseases, Research Article, SUSCEPTIBILITY LOCI, Science, Mutation, Missense, CLASSIFICATION, Genètica molecular, Càncer colorectal, Humans, GENOME-WIDE ASSOCIATION, Epidemiologia, METAANALYSIS, Genetic Association Studies, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, IDENTIFICATION, MUTATIONS, MEDICINE, mutations, Colorectal cancer, susceptibility loci, DNA Repair Enzymes, Amino Acid Substitution, genome-wide association, identification, Genètica

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citations
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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