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妇科肿瘤患者中意义不确定的种系变异。

Germline Variants of Uncertain Significance in Gynecologic Oncology Patients.

机构信息

Department of Internal Medicine, Division of Human Genetics, The Ohio State University Comprehensive Cancer Center, College of Medicine, Columbus, Ohio.

出版信息

Clin Obstet Gynecol. 2024 Dec 1;67(4):672-675. doi: 10.1097/GRF.0000000000000898. Epub 2024 Sep 26.

Abstract

Germline and somatic genetic/genomic testing are commonly ordered for gynecologic oncology patients. Genetic tests can inform disease etiology, prognosis, treatment decisions, and risk to the patient's relatives. Variants of uncertain significance (VUSs) are frequently encountered and have a more nuanced interpretation than straightforward pathogenic or benign variant classifications. Clinical care providers should be familiar with why and how VUSs are reported, their clinical significance, variant reclassification practices, and patient perceptions of VUSs.

摘要

生殖细胞系和体细胞遗传/基因组检测通常用于妇科肿瘤患者。遗传检测可以提供疾病病因、预后、治疗决策以及患者亲属风险的信息。不确定意义的变异(VUS)经常遇到,其解释比直接的致病性或良性变异分类更为复杂。临床护理提供者应熟悉 VUS 报告的原因和方式、其临床意义、变异再分类实践以及患者对 VUS 的看法。

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