The three autosomal dominant inherited polyposis syndromes, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers polyposis predispose to colorectal cancer as does hereditary non-polyposis colorectal cancer syndrome. Uncovering the genetic background of these four cancer traits provides the possibility for genetic testing of the family members of an affected patient. Before test...

The cardinal features of colorectal cancer in patients with the MUTYH-associated polyposis syndrome, featured in this editorial, are of very recent discovery and remain under review as new clinical phenotypes for these patients are still being identified. Importantly, its phenotype results from homozygosity of the MUTYH gene and, therefore, is inherited in an autosomal recessive pattern. In a m...

OBJECTIVES To report on the phenotypic spectrum and clinical management of Chinese patients suffering from the rare autosomal dominant colorectal cancer syndrome of familial adenomatous polyposis. DESIGN Analysis of prospectively collected data from the database of a regional registry. SETTING The Hereditary Gastrointestinal Cancer Registry, Hong Kong. PARTICIPANTS One hundred and eight p...

The concept of the adenoma-carcinoma sequence, as first espoused by Morson et al. whereby the development of colorectal cancer is dependent on a stepwise progression from adenomatous polyp to carcinoma is well documented. Initial studies of the genetics of inherited colorectal cancer susceptibility concentrated on the inherited colorectal cancer syndromes, such as Familial Adenomatous Polyposis...

Microsatellite instability implying multiple replication errors (RER+ phenotype) characterizes a proportion of colorectal carcinomas, particularly those from patients with the hereditary non-polyposis colorectal carcinoma syndrome. We studied the incidence of microsatellite instability in more than 500 sporadic tumors representing 6 different types of cancer. Apart from colorectal carcinoma [se...

Colorectal cancer (CRC) is the second cause of cancer deaths, with over 1 million new cases estimated every year. Familial adenomatous polyposis, MUTYH-associated polyposis and hamartomatous polyposis are inherited syndromes that account for 2% 5% of all colon cancer. The mutated genes responsible for the vast majority of these disorders, are now known (MLH1, MSH2, MSH6, PMS2, APC, MYH, LKB1, S...

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

the inherited polyposis syndromes and colorectal carcinoma. Four patients are reported, to illustrate the wide spectrum of colonic polyps which may occur in multiple form in adults. Included are unusual cases of metaplastic and-juvenile polyposis. The subject is reviewed, and the need for accurate histological diagnosis is stressed. The possibility that the difference between familial adenomato...

Synchronous colorectal carcinoma refers to more than one primary colorectal carcinoma detected in a single patient at initial presentation. A literature review has shown that the prevalence of the disease is approximately 3.5% of all colorectal carcinomas. This disease has a male to female ratio of 1.8:1. The mean age at presentation of patients with synchronous colorectal cancer is in the earl...