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...

A number of hereditary conditions have been identified that predispose to colorectal cancer. Most inherited forms of colorectal cancer can be placed into two groups, those that are associated with a pre-malignant phenotype (the “polyposis” syndromes) and those do not have a pre-malignant phenotype (generally termed “non-polyposis”). The polyposis syndromes can be further subdivided into two gro...

Intestinal polyposis syndromes comprise of a group of diseases conditioned by the occurrence of hereditary mutations. In the Polish DNA bank of hereditary predisposition to polyposis we collected DNA samples derived from persons from families with a diagnosed adenomatous polyposis including familial adenomatous polyposis coli together with its recessive form, Turcot’s syndrome, inherited mixed ...

Watanabe et al. [3] first reported a case of juvenile polyposis of the stomach in 1979. Since after, it was proposed as the fourth category of juvenile polyposis [4]. Juvenile polyposis of the stomach is, however, difficult to diagnose because of rare phenotype and difficulty of differential diagnosis between juvenile polyp and foveolar hyperplastic polyp histologically by biopsy specimens. We ...

Objectives Serrated polyposis (hyperplastic polyposis) is characterized by multiple polyps with serrated architecture in the colorectum. While patients with serrated polyposis are known to be at increased risk of colorectal cancer (CRC) and possibly extracolonic cancers, cancer risks for their relatives have not been widely explored. The aim of this study was to estimate the risks of CRC and ex...

There are multiple hereditary and non-hereditary polyposis syndromes that were originally categorized as adenomatous or hamartomatous. More recently, serrated polyps and their syndromes have been defined. Nearly all of these syndromes have a risk of colorectal cancer in the individuals and affected family members. Most of these syndromes are associated with extracolonic manifestations, includin...

AIMS Serrated polyposis syndrome is a disease that is often missed in the clinical setting and is associated with colorectal cancer. We investigated the prevalence of SPS and the association between colorectal or other cancers in a 10-year, retrospective data analysis. METHODS We reviewed complete colonoscopy data obtained from January 2005 through January 2015 at a health-screening centre. S...

Background:. UK Clinical Molecular Genetics Society (CMGS) consensus best practice guidelines for molecular analysis of familial adenomatous polyposis coli (FAP) were published in 2000. Technological developments in molecular testing for FAP together with the clinical and molecular characterisation of MUTYH-associated polyposis (MAP) led to the need to update the original FAP guidelines which w...

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...