The clinical and genetic manifestations of hereditary nonpolyposis colorectal carcinoma.
BACKGROUND
Hereditary nonpolyposis colorectal cancer (HNPCC) is a syndrome that affects a significant percentage of the total cancer population but is not easily recognized because of a lack of a distinctive clinical marker such as multiple polyps.


METHODS
The present review discusses the clinical characteristics, pathology, genetics, management, and surveillance of HNPCC. The diagnosis of HNPCC is dependent upon family history. It is defined by the Amsterdam criteria consisting of: (1) 3 or more relatives with histologically verified colorectal carcinoma, 1 of whom is a first-degree relative of the other 2; (2) colorectal carcinoma involving at least two generations; and (3) one or more colorectal carcinoma cases diagnosed at less than 50 years of age.


CONCLUSIONS
The diagnosis of HNPCC requires the demonstration of vertical transmission of the syndrome in the family pedigree. Attention should be focused on reports of cancer of all anatomic sites and the determination of site, histology, and age at diagnosis.
D'Emilia
J C
JC
Department of Surgical Oncology, Roswell Park Cancer Institute, Buffalo, New York 14263-0001.
Rodriguez-Bigas
M A
MA
Petrelli
N J
NJ
D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D005799:Genes, Dominant; D006801:Humans; D015994:Incidence; D008403:Mass Screening; D008875:Middle Aged; D011159:Population Surveillance; D012042:Registries; D012307:Risk Factors