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Cancers | Free Full-Text | Variant Characterization of a Representative Large Pedigree Suggests “Variant Risk Clusters” Convey Varying Predisposition of Risk to Lynch Syndrome
1. Introduction Colorectal cancer (CRC) is the most frequent neoplasm worldwide, accounting for 8% of cancer-related deaths [1,2]. Pathogenetic variants in known high-penetrance cancer-risk-associated genes have been implicated in up to 8% of all CRC cases, where one in five (20%) cases of this type were diagnosed in under 40 year olds [3,4,5] compared to the average worldwide age at diagnosis of 65 [6].
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