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将通用种系基因检测纳入前列腺癌患者的标准治疗:时机已到。

Implementation of Universal Germline Genetic Testing Into Standard of Care for Patients With Prostate Cancer: The Time Is Now.

作者信息

Shore Neal, Nielsen Sarah M, Esplin Edward D, Antonarakis Emmanuel S, Barata Pedro C, Beer Tomasz M, Beltran Himisha, Bryce Alan, Cookson Michael S, Crawford E David, Dorff Tanya B, George Daniel J, Heath Elisabeth I, Helfand Brian T, Hussain Maha, Mckay Rana R, Morgans Alicia K, Morris Michael J, Paller Channing J, Ross Ashley E, Sartor Oliver, Shen John, Sieber Paul, Smith Matthew R, Wise David R, Armstrong Andrew J

机构信息

Carolina Urologic Research Center, Myrtle Beach, SC.

Labcorp Genetics Inc (formerly Invitae Corp), San Francisco, CA.

出版信息

JCO Oncol Pract. 2025 Jun;21(6):747-753. doi: 10.1200/OP-24-00626. Epub 2024 Dec 19.

Abstract

Indications for and implications of germline genetic testing (GGT) in patients with prostate cancer have expanded over the past decade, particularly related to precision therapies and management. GGT has become the standard of care for many cancers such as breast, ovarian, colorectal, pancreatic, and metastatic prostate cancer, and it is imperative that patients be offered timely and equitable access to testing as it can inform patient-physician shared decision making for management of the current cancer as well as anticipatory guidance for disease progression. Additionally, GGT guides screening for and prevention of secondary malignancies for the patient and cascade testing for at-risk family members. Here, we present data supporting the notion that clinicians should offer all patients with prostate cancer the opportunity to undergo comprehensive GGT for pathogenic germline variants known to be associated with familial cancer and/or known to have implications for treatment and management.

摘要

在过去十年中,前列腺癌患者种系基因检测(GGT)的适应证及影响范围有所扩大,尤其是在精准治疗和管理方面。GGT已成为许多癌症(如乳腺癌、卵巢癌、结直肠癌、胰腺癌和转移性前列腺癌)的标准治疗手段,必须为患者提供及时且公平的检测机会,因为它能为患者与医生共同决策当前癌症的管理以及疾病进展的预期指导提供依据。此外,GGT还指导对患者进行继发性恶性肿瘤的筛查和预防,以及对高危家庭成员进行级联检测。在此,我们展示的数据支持这样一种观点,即临床医生应让所有前列腺癌患者都有机会接受全面的GGT检测,以查找与家族性癌症相关的已知致病种系变异,和/或已知对治疗及管理有影响的变异。

本文引用的文献

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