Abstract
BackgroundCommon low-penetrance genetic variants have been consistently associated with colorectal cancer risk.AimTo determine if these genetic variants are associated also with adenoma susceptibility and may improve selection of patients with increased risk for advanced adenomas and/or multiplicity (≥ 3 adenomas).MethodsWe selected 1,326 patients with increased risk for advanced adenomas and/or multiplicity and 1,252 controls with normal colonoscopy from population-based colorectal cancer screening programs. We conducted a case-control association study analyzing 30 colorectal cancer susceptibility variants in order to investigate the contribution of these variants to the development of subsequent advanced neoplasia and/or multiplicity.ResultsWe found that 14 of the analyzed genetic variants showed a statistically significant association with advanced adenomas and/or multiplicity: the probability of developing these lesions increased with the number of risk alleles reaching a 2.3-fold risk increment in individuals with ≥ 17 risk alleles.ConclusionsNearly half of the genetic variants associated with colorectal cancer risk are also related to advanced adenoma and/or multiplicity predisposition. Assessing the number of risk alleles in individuals within colorectal cancer screening programs may help to identify better a subgroup with increased risk for advanced neoplasia and/or multiplicity in the general population.
Highlights
Colorectal cancer (CRC) is one of the most common malignancies in the Western world and represents an important health problem worldwide.[1]
We found that 14 of the analyzed genetic variants showed a statistically significant association with advanced adenomas and/or multiplicity: the probability of developing these lesions
Half of the genetic variants associated with colorectal cancer risk are related to advanced adenoma and/or multiplicity predisposition
Summary
Colorectal cancer (CRC) is one of the most common malignancies in the Western world and represents an important health problem worldwide.[1] Most CRCs arise from adenomatous polyps but only some adenomas acquire additional genetic alterations at the somatic level that make them grow, develop advanced histological features, and progress to cancer.[2] Patients presenting adenomas at the baseline colonoscopy with villous histology or high grade dysplasia or !10 mm in size, or !3 adenomas are considered at an increased risk for a subsequent advanced neoplasia, either cancer or advanced adenoma.[3] Transition from detectable adenoma to CRCs is estimated to take at least 10 years in most cases, providing an excellent window for early detection of the disease. Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk
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