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The primary aim was to describe the prevalence of self-reported bladder and bowel dysfunction in relatives of persons with hereditary nonpolyposis colorectal cancer (HNPCC). This is a prospective study of persons at high risk of HNPCC who have participated in a clinic-based registry study. All participants completed a questionnaire in which they reported their bowel and bladder symptoms in the preceding 3 months using the Defaecation Syndrome Inventory (DSI) and the Colorectal-Anal Distress Inventory-40 (CRADI-40). Receiver operator characteristics (ROC) curves were used to estimate the optimal cut-point for the DSI and CRADI-40 subscales to detect high levels of bowel and bladder distress. Participants were recruited from a clinic-based registry study of HNPCC (n = 576). HNPCC and cancer controls (n = 228) were separately recruited from family practice and colorectal surgical practices in Western Australia. Data were obtained on 519 participants (280 HNPCC and 229 cancer controls). For each individual, the point of highest sensitivity and specificity for each bowel and bladder subscale were found. Cronbach’s alpha (internal consistency reliability) was calculated for the DSI and CRADI-40 scales in both groups. The prevalence of bowel problems in HNPCC and cancer controls was 20.0 and 26.3% (P = 0.124) and of bladder problems was 15.6 and 22.4% (P = 0.142) respectively. Cronbach’s alpha values were 0.91 (DSI) and 0.92 (CRADI-40) in the HNPCC group and 0.82 and 0.90 in the cancer control group. For the DSI, the optimal cut-point for the parent with no history of HNPCC was ≥14 (sensitivity 77.4, specificity 60.5), which is lower than the figure of 15 as originally reported. For the DSI, the optimal cut-point for relatives of HNPCC was ≥16 (sensitivity 75.3, specificity 62.7), which is lower than the figure of 17 as