Hereditary colorectal cancer and polyposis syndromes; Lynch syndrome and familial adenomatous polyposis

Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma.

Women with hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome have a high risk for endometrial cancer (EC) and frequently present with a gynaecological cancer as their first or sentinel malignancy. Identification of these patients is important given their personal and family risk for synchronous and metachronous tumours. Modalities to detect ECs for the possibility of HNPCC inclu...

Gender-Specific Aspects of Lynch Syndrome and Familial Adenomatous Polyposis

BACKGROUND The most frequent hereditary colorectal cancer (CRC) syndromes are Lynch syndrome and familial adenomatous polyposis (FAP), accounting for approximately 5% of the CRC burden. Both are characterized by an autosomal dominant mode of transmission and require an individualized approach of intensified screening and prophylactic surgery. METHODS In this review, we provide an overview of ...

Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes

There have been significant advances in our knowledge about the molecular changes that precede and accompany the development of inherited predispositions to colorectal cancer. In this review the clinical relationship to the molecular changes associated with the polyposis syndromes is presented. The aim is to put into context the diverse findings that have been shown to be associated with the de...

Genetic Basis of Hereditary Colorectal Cancers: Hereditary Nonpolyposis Colorectal Cancer and Familial Adenomatous Polyposis

Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome.

Within groups of patients with colorectal cancer who report a family history of cancer, it is possible to identify cases associated with defined genetic susceptibility syndromes. These syndromes account for a small, but appreciable, proportion of all cases of colorectal cancer and are characterised by very high absolute cancer risk. There is usually evidence of germline transmission of a domina...