Corewell Health Cancer Center, Division of Gynecologic Oncology, Michigan State University- College of Human Medicine, United States.
Weill Cornell Medicine, Division of Gynecologic Oncology, United States.
Gynecol Oncol. 2024 Feb;181:170-178. doi: 10.1016/j.ygyno.2023.12.010. Epub 2024 Jan 12.
Germline and somatic genetic testing have become critical components of care for people with ovarian cancer. The identification of germline and somatic pathogenic variants as well as homologous recombination deficiency can contribute to the prediction of treatment response, prognostic outcome, and suitability for targeted agents (e.g. poly (ADP-ribose) polymerase (PARP) inhibitors). Furthermore, identifying germline pathogenic variants can prompt cascade genetic testing for at-risk relatives. Despite the clinical benefits and consensus recommendations from several organizations calling for universal genetic testing in ovarian cancer, only about one third of patients complete germline or somatic genetic testing. The members of the Society of Gynecologic Oncology (SGO) Clinical Practice Committee have composed this statement to provide an overview of germline and somatic genetic testing for patients with epithelial ovarian cancer, focusing on available testing modalities and options for care delivery.
种系和体细胞遗传检测已成为卵巢癌患者治疗的重要组成部分。种系和体细胞致病性变异以及同源重组缺陷的鉴定有助于预测治疗反应、预后结果和对靶向药物(如聚(ADP-核糖)聚合酶(PARP)抑制剂)的适用性。此外,鉴定种系致病性变体可以促使对高危亲属进行级联遗传检测。尽管具有临床益处,并且有几个组织的共识建议呼吁在卵巢癌中进行普遍的遗传检测,但只有约三分之一的患者完成了种系或体细胞遗传检测。妇科肿瘤学协会(SGO)临床实践委员会的成员撰写了这份声明,旨在概述上皮性卵巢癌患者的种系和体细胞遗传检测,重点介绍了可用的检测方式和护理提供选择。