MUTYH 생식세포 유전자 변이의 임상적 의의

초록

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.

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