Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations

Abstract

Background: Although increased colonoscopic surveillance is recommended for hereditary nonpolyposis colon cancer (HNPCC) mutation carriers, limited information is available on adherence to colorectal cancer screening recommendations. This study investigated colonoscopy practices following genetic testing for HNPCC mutations. Methods: This prospective cohort study was conducted between May 22, 1996, and November 13, 1999. Participants were 98 men and women without a personal history of colon cancer or colectomy who were identified from 11 extended HNPCC families. Colonoscopy use was evaluated by telephone before genetic counseling and was reassessed 1, 6, and 12 months following test results disclosure. Results: During the 12 months following genetic counseling and testing, 73% (16/22) of HNPCC mutation carriers, 16% (8/49) of noncarriers, and 22% (6/27) of decliners reported having a colonoscopy (χ2=23.97, P