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Mayo Clin Proc. 2019 Jun;94(6):1099-1116. doi: 10.1016/j.mayocp.2019.01.042.

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

Author information

1
Division of Gastroenterology and Hepatology, Mayo Clinic, Scottsdale, AZ. Electronic address: Samadder.jewel@mayo.edu.
2
Division of Gastroenterology and Hepatology, Mayo Clinic, Scottsdale, AZ.
3
Division of Medical Oncology, Mayo Clinic, Rochester, MN.
4
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
5
Department of Clinical Genomics and Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL.

Abstract

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.

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