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Oh: Hereditary Nonpolyposis Colorectal Cancer
Review Article

The Ewha Medical Journal 2017; 40(1): 29-34.

Published online: 31 January 2017

DOI: https://doi.org/10.12771/emj.2017.40.1.29

Hereditary Nonpolyposis Colorectal Cancer

Bo Young Oh

Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Corresponding author: Bo Young Oh. Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea. Tel: 82-2-3410-2979, Fax: 82-2-3410-1655, obbyy@hanmail.net

Received 15 December 2016       Accepted 4 January 2017

Copyright © 2017. Ewha Womans University School of Medicine

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common hereditary colorectal cancer syndrome and accounts for about 5% of colorectal cancer. It is inherited as autosomal dominant type and is caused by germline mutations in mismatch repair genes such as MLH1, MSH2, MSH6, and PMS2. Patients with HNPCC are characterized by a high level of microsatellite instability. They commonly develop colorectal cancer at young age and increase risk of extra-colic malignancies, especially endometrial cancer. They also show better oncologic outcomes compared to sporadic colorectal cancer. Several tools are used in diagnosis of HNPCC, including history taking, microsatellite instability test, immunohistochemistry for mismatch repair protein, and gene test. Affected patients and their families should get genetic counseling and regular surveillance for cancers, which can improve their survival rate.

Keywords: Colorectal neoplasms, hereditary nonpolyposis, DNA mismatch repair, Microsatellite instability, Genetic testing

Figures and Tables

Fig. 1

Diagnostic approach of hereditary nonpolyposis colorectal cancer. MSI, microsatellite instability; MSI-H, high level of MSI; IHC, immunohistochemistry; MMR, mismatch repair; MSS, microsatellite stable; MSI-L, low level of MSI.

emj-40-29-g001
Table 1

Clinical criteria for diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)

emj-40-29-i001
Table 2

Guidelines for screening affected person with hereditary nonpolyposis colorectal cancer (HNPCC)

emj-40-29-i002

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