Several investigators have reported germline mutations of the APC gene in patients with
familial adenomatous polyposis (FAP) as well as somatic mutations in tumors developed in …

The task of identifying mutations in nucleic acid sequences is a vital component of research
in mammalian genetics. With the advent of the polymerase chain reaction, several useful …

Background Familial adenomatous polyposis is an inherited disease characterized by
multiple colorectal tumors. The diagnosis has classically been based on the detection of …

Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a
mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative …

Germ-line mutations in the human adenomatous polyposis coli (APC) gene result in familial
adenomatous polyposis, an autosomal dominant disorder characterized by the early onset …

Desmoids are rare, benign fibromatous lesions, which can arise in patients with familial
adenomatous polyposis (FAP), a disorder caused by germline adenomatous polyposis coli …

An attenuated form of familial adenomatous polyposis coli, AAPC, causes relatively few
colonic polyps, but still carries a significant risk of colon cancer. The mutant alleles …

Background Germ-line mutations in DNA mismatch-repair genes (MSH2, MLH1, PMS1,
PMS2, and MSH6) cause susceptibility to hereditary nonpolyposis colorectal cancer. We …

The clinical course of familial adenomatous polyposis (FAP) varies considerably between
patients. Prediction of the severity of the disease is important in the interest of effective …

BACKGROUND/AIMS The development of colorectal cancer and a variable range of
extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the …