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Genetic Variants Associated with Colorectal Adenoma Susceptibility
(PUBLIC LIBRARY SCIENCE, 2016-04-14)
Background
Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk.
Aim
To determine if these genetic variants are associated also with adenoma susceptibility and may ...
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
(BioMed Central, 2013-01)
Background: Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC ...
The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals
(Public Library Science, 2014-04-17)
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 ...
A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer
(Public Library of Science, 2012-09-25)
Objective: Early-onset colorectal cancer (CRC) represents a clinically distinct form of CRC that is often associated with a poor prognosis. Methylation levels of genomic repeats such as LINE-1 elements have been recognized ...
Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome
(BioMed Central, 2011-01)
Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS ...
Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy
(Public Library of Science, 2018-09-06)
Objective
The aim of this study was to validate a molecular classification of colorectal cancer (CRC) based on microsatellite instability (MSI), CpG island methylator phenotype (CIMP) status, BRAF, and KRAS and investigate ...