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Clin Colon Rectal Surg
DOI: 10.1055/s-0044-1787884
Review Article

Hereditary Colorectal Cancer: From Diagnosis to Surgical Options

Rami James N. Aoun
1   Division of Colon and Rectal Surgery, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio
,
Matthew F. Kalady
1   Division of Colon and Rectal Surgery, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio
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Abstract

Hereditary colorectal cancer (CRC) syndromes account for up to 5% of CRC. Patients have an increased risk of CRC and extracolonic cancers, both of which develop at an early age. The main polyposis syndromes include familial adenomatous polyposis, MYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and PTEN hamartoma syndrome. The non-polyposis syndromes include Lynch syndrome and familial colorectal cancer type X. Each of the syndromes have distinct but sometimes overlapping phenotypes. Clinical evaluation and ultimately the underlying germline genetic pathogenic variants define the syndromes. Each syndrome has polyp, CRC, and extracolonic risks and management is based on early and timely surveillance with therapeutic and often extended prophylactic surgery. Surgical intervention strategies are individualized, considering not only the earlier onset of malignancies and heightened risks for metachronous cancers but also the patient's needs and quality of life. This article reviews the different diagnostic approaches to hereditary CRC and highlights subsequent disease-specific management and surgical decision-making strategies.

Keywords

colorectal cancer - hereditary colorectal cancer - Lynch syndrome - familial adenomatous polyposis


Publication History

Article published online:
03 July 2024

© 2024. Thieme. All rights reserved.

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