Hereditary colon cancer syndromes.

Colon cancer is associated with a family history in up to 25% of cases. As many as 5% are associated with an established hereditary syndrome, demonstrating the profound influence of inheritable genetic mechanisms in the development of this disease. These syndromes confer a diverse spectrum of risk, age of presentation, endoscopic and histological findings, extracolonic manifestations, and modes of inheritance. As the molecular characteristics of these disorders become better described, enhanced genotype-phenotype correlations may offer a more targeted approach to diagnosis, screening, and surveillance. While the strategies for diagnosis and management of familial adenomatous polyposis (FAP) and Lynch syndrome are more established, the approach to newly recognized syndromes such as MUTYH-associated polyposis (MAP) and hyperplastic polyposis syndromes continues to evolve. Effective cancer prevention in affected individuals and at-risk family members first requires timely recognition of these hereditary colon cancer syndromes followed by integration of genetic testing and clinical examinations.

Gala M ，Chung DC 《-》

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

Syngal S ，Brand RE ，Church JM ，Giardiello FM ，Hampel HL ，Burt RW ，American College of Gastroenterology ... -  《-》

Hereditary Cancer Syndromes-A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes.

Hereditary causes due to mutations and defects in certain genes account for roughly 5% to 10% of all colorectal cancers. These inherited syndromes have been associated with a 60% to 100% lifetime risk for development of colorectal cancer, depending on the genetic syndrome, and many also carry an increased risk for multiple extracolonic malignancies. In this second part of a review series on hereditary cancer syndromes, the focus will be to provide guidance on the features and management of the most commonly encountered hereditary colorectal cancers and polyposis conditions including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and hamartomatous polyposis.

Samadder NJ ，Baffy N ，Giridhar KV ，Couch FJ ，Riegert-Johnson D ... -  《-》

Clinical diagnosis and management of hereditary colorectal cancer syndromes.

Vasen HF 《JOURNAL OF CLINICAL ONCOLOGY》

Familial colorectal cancer syndromes: an overview of clinical management.

Sammour T ，Hayes IP ，Hill AG ，Macrae FA ，Winter DC ... -  《-》