Association of familial colorectal cancer with variants in the E-cadherin ( CDH1 ) and cyclin D1 ( CCND1 ) genes

Introduction About 20% of colorectal cancer (CRC) patients show some kind of familiarity, which might be caused by yet unknown combinations of low penetrance susceptibility genes. We aimed to identify genetic factors for familial CRC (fCRC) in a unique study design that includes phenotypic extremes as represented by fCRC cases and ‘hyper-normal’ controls without CRC history and no adenomatous polyps on colonoscopy.