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MUTYH 생식세포 유전자 변이의 임상적 의의

Clinical Significance of MUTYH Germline Variant

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초록

MUTYH 유전자 변이는 상염색체 열성 형질로 대장암과 대장 용종증을 유발하고, 방광암, 위암, 간담도암, 난소암, 자궁내막암, 유방암 등의 발생과 연관이 있다. 본 종설에서는 MUTYH 유전자의 변이에 대한 해석과 미국국립종합암네트워크 관리 방침 및 현재까지 보고된 문헌들에 대해 정리하였다.

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.

참고문헌 (43)

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