Skefos Catherine M, Brock Pamela L, Blouch Erica, Greenberg Samantha E
The University of Texas MD Anderson Cancer Center, Clinical Cancer Genetics Program, Houston, Texas, USA.
The Ohio State University College of Medicine, Division of Human Genetics, Comprehensive Cancer Center, Columbus, Ohio, USA.
Endocr Oncol. 2024 May 13;4(1):e230043. doi: 10.1530/EO-23-0043. eCollection 2024 Jan 1.
This commentary explores the complexities faced by clinicians when encountering a secondary pathogenic variant (PV) in patients without a personal or family history of -related tumors. The increasing use of germline multi-gene panel testing has led to a rise in such secondary findings, necessitating a nuanced approach to counseling, surveillance, and decision-making. We aim to discuss the current data surrounding the penetrance of PVs, the spectrum of screening guidelines, recommendations for educating individuals and families about their secondary findings, and the need for future research to optimize care for these individuals. Practical recommendations for clinicians dealing with patients with secondary findings include acknowledging the limitations of existing guidelines, fostering shared decision-making, and considering specialist referrals. Overall, the evolving landscape of penetrance data warrants ongoing reassessment of surveillance approaches.
本评论探讨了临床医生在遇到没有个人或家族相关肿瘤病史的患者出现二级致病变异（PV）时所面临的复杂性。种系多基因检测的日益普及导致此类二级发现增多，这就需要采取细致入微的咨询、监测和决策方法。我们旨在讨论围绕PV外显率的现有数据、筛查指南的范围、关于向个人和家庭宣传其二级发现的建议，以及未来优化这些个体护理的研究需求。针对处理有二级发现患者的临床医生的实用建议包括认识到现有指南的局限性、促进共同决策以及考虑转诊至专科医生。总体而言，外显率数据不断变化的情况需要持续重新评估监测方法。
