Lab Med Online.  2023 Oct;13(4):301-307. 10.47429/lmo.2023.13.4.301.

Clinical Significance of MUTYH Germline Variant

• Ryu KH
• Kang MC
• Jung YR
• Jang MA
• Park JE
• Kim N
• Won D
• Park B
• Kong SY

• KMID: 2552756
• DOI: http://doi.org/10.47429/lmo.2023.13.4.301

Abstract

The MUTYH germline pathogenic variant is known to increase the risk of polyposis and colorectal cancer with a recessive mode of inheritance. However, the risks of other cancers caused by the MUTYH variant are not well described. Herein we reviewed the characteristics of MUTYH-associated polyposis, colorectal cancer, and extracolonic cancers. Furthermore, we present the current National Comprehensive Cancer Network (NCCN) guideline on the screening program for the MUTYH variant. These may be helpful in clinical practice when counseling patients with the MUTYH germline variant.

Keyword

MUTYH; MUTYH-associated polyposis (MAP); Colorectal cancer; Genetic counseling

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