Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).

摘要: The family histories of 130 individuals with documented hereditary non-polyposis colorectal cancer (HNPCC) (caused by mutations in mismatch-repair (MMR) genes MSH2 (n = 64), MLH1 62) or MSH6 4)) were obtained, and incidence cancers those families was compared to that the general population. There a total 982 723 individuals. Colorectal (CRC) commonest type (64% 55% from germline respectively). Median age at diagnosis first CRC mutation 59 years 45 both families. relative risk (RR) endometrial 55 families, 27 37 families; median 49 years. Even within tended cluster, 28 58 cases coming three more (P < 0.001). Absolute still greater than any other (other CRC). 5% gastric (RR 12); 53% these diagnosed before 50 Seven small intestinal occurred 26). 13 ureter; all These cluster 0.001); seven urothelial had such two individuals; others kidney cancer. Nineteen ovarian (70%) 70% 9 sebaceous skin cancer, 3 6 four Of 22 pancreatic cancers, 14 known be 60 Breast RR 1.7 overall. (truncating type, site mutation) showed no obvious correlation presence absence extra-colonic