[Familial adenomatous polyposis].
Familial adenomatous polyposis is a rare genetic disease with a dominant mode of inheritance, involved in 1% of colorectal cancer. The APC gene, responsible for the disease, has been localized on the long arm of chromosome 5 and has recently been cloned and sequenced. Mutations predicted to alter the coding property of the APC gene have been reported in large series of adenomatous polyposis patients. Some of them have been correlated with an attenuated phenotype. A genetic test has been developed in affected families. Systematic screening of registered at-risk relatives has allowed a significant reduction of the median age at adenomatous polyposis diagnosis, and thus the incidence of colorectal cancer.
Olschwang
S
S
Laboratoire de génétique des tumeurs, institut Curie, Paris, France.
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D017491:Genes, APC / Q000235:genetics*; D006801:Humans; D010641:Phenotype
La polypose adénomateuse familiale.