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Review Article

Hereditary Nonpolyposis Colorectal Cancer

Bo Young Oh
The Ewha Medical Journal 2017;40(1):29-34. Published online: January 31, 2017

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: December 15, 2016   • Accepted: January 4, 2017

Copyright © 2017. Ewha Womans University School of Medicine

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.

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  • 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
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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.jpg
Table 1

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

emj-40-29-i001.jpg
Table 2

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

emj-40-29-i002.jpg

Figure & Data

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      DOI: https://doi.org/10.12771/emj.2017.40.1.29
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      Hereditary Nonpolyposis Colorectal Cancer
      Ewha Med J. 2017;40(1):29-34.   Published online January 31, 2017
      DOI: https://doi.org/10.12771/emj.2017.40.1.29
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      Hereditary Nonpolyposis Colorectal Cancer
      Image
      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.

      Fig. 1

      Hereditary Nonpolyposis Colorectal Cancer

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

      Guidelines for screening affected person with hereditary nonpolyposis colorectal cancer (HNPCC)
      Table 1 Clinical criteria for diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)

      Table 2 Guidelines for screening affected person with hereditary nonpolyposis colorectal cancer (HNPCC)

      Table 1

      Table 2

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