Background Familial adenomatous polyposis (FAP) is a rare hereditary colorectal cancer syndrome estimated to account for about 1% of colorectal cancers. While there is variation in the FAP phenotype amongst individuals and families with mutations, it is characterized by a striking phenotype of colonic polyposis and other distinctive features such as desmoids and gastric fundic gland polyps. It ...

...................................................................................................................... 9 REVIEW OF THE LITERATURE .............................................................................. 11 1. GENES AND CANCER...........................................................................................................................11 1.1 Oncogenes..............

Hereditary non-polyposis colorectal cancer (HNPCC) is a syndrome of inherited bowel and other cancers that has been said to account for up to 15% of all colorectal carcinomas (CRCs). HNPCC can now be diagnosed at the molecular level by detecting germline mutations in genes involved in mismatch repair. A current problem is to determine the prevalence of HNPCC mutations in colon cancer patients w...

OBJECTIVE To determine to what extent individuals with various family histories of colorectal cancer (from one to three or more affected first degree relatives) benefit from colonoscopic surveillance. DESIGN Prospective, observational study of high risk families, followed up over 16 years. SETTING Tertiary referral family cancer clinic in London. PARTICIPANTS 1678 individuals from familie...

Serrated polyposis is a rare disorder characterised by the presence of multiple serrated polyps in the large intestine, and an increased personal and familial risk of colorectal cancer. Knowledge of the molecular characteristics of colonic lesions which develop in this syndrome is fragmented, making it difficult to understand the underlying genetic basis of this condition. We conducted a system...

Advances in the molecular biology of colorectal cancer (CRC) broadened our understanding of this disease, but also provided insight into the pathogenesis of sporadic and inherited CRC. Mutations of APC gene are responsible for familial adenomatous polyposis (FAP), but mutations in six mismatch repair (MMR) genes: MSH2, MLH1, PMS1, PMS2, MSH6 and MSH3 for hereditary non-polyposis colorectal canc...

Hereditary non-polyposis colorectal cancer (HNPCC) is a type of hereditary colorectal cancer with autosomal dominant traits. Its causal genes are mismatch repair genes such as the hMSH2 and hMLH1 genes. Owing to its frequency, juvenile onset, and the outbreaks of multiple colorectal cancers and cancers occurring over multiple organs, it is recognized as a very important disease for the purpose ...