Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review

摘要: Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Warthin's description of family G, which he began studying in 1895. observations were not fully appreciated until 1966 when two families with an autosomal dominant inheritance pattern (CRC) and endometrial described. This condition was first termed the "cancer syndrome" later renamed HNPCC. Some have proposed that HNPCC consists at least syndromes: Lynch syndrome I, hereditary predisposition for CRC having early (approximately 44 years) age onset, a proclivity (70%) proximal colon, excess synchronous metachronous colonic cancers II, featuring similar phenotype accompanied by high risk carcinoma endometrium. Transitional cell ureter renal pelvis carcinomas stomach, small bowel, ovary, pancreas also afflict some families. Current estimates indicate may account as much 6% total burden. There are no known premonitory phenotypic signs or biomarkers susceptibility syndromes. report will summarize current knowledge, emphasis on manner this knowledge can be employed effectively diagnosis management