PALB2 생식세포 병원성 유전자 변이의 임상적 의의

Abstract

Germline mutations in PALB2 are associated with an increased risk of breast, ovarian, and pancreatic cancer. PALB2 is considered the most important breast cancer predisposition gene after BRCA1 and BRCA2. However, the management and surveillance of PALB2 germline pathogenic variant carriers have not been well described and have continued to change over the years. Herein, we review the pan-cancer risk of PALB2 germline pathogenic variants and present clinical surveillance practices based on the most recent National Comprehensive Cancer Network guidelines. This will be helpful for genetic counseling of Korean patients with PALB2 germline variants.