Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures.

摘要: Hereditary non polyposis colorectal cancer (HNPCC) is a hereditary predisposition to and endometrial cancer, caused by mutations of the mismatch repair (MMR) genes MSH2, MLH1 MSH6. Regular colonoscopy reduces incidence in mutation carriers dramatically. The aim this study was evaluate use proven HNPCC carriers. We also evaluated satisfaction with counseling screening procedures at long term. A questionnaire survey performed among 94 MMR gene Data were analyzed using univariate multivariate analysis. average time follow-up 3,5 years (range 0.5-8.5 years). response rate 74%. proportion unaffected under colonoscopic increased from 31 88% upon genetic testing, for gynecological 17 69%. However, more than half responders experienced as unpleasant or painful. About 97% felt well informed during counseling, sufficiently supported. Ten percent reported high worry that significantly (P = 0.007) associated perceived risk. Six (9%) regretted being tested. Remarkably, 4 these 6 close relative died recently cancer. Problems obtaining disability life insurance mortgage out 10 healthy opting services. In conclusion, testing considerably improves compliance screening, which will result reduction HNPCC-related morbidity mortality Most cope their susceptibility on