关键词: Genetic testing Germline testing Lynch syndrome Next generation sequencing Parp inhibitors Prostate cancer Targeted therapies Therapeutics immune checkpoint inhibitors

Mesh : Humans Male Prostatic Neoplasms / genetics therapy pathology Germ-Line Mutation Mutation Genetic Testing / methods

来  源:   DOI:10.1016/j.currproblcancer.2024.101101

Abstract:
Genetic testing is an integral part of the workup of metastatic prostate cancer, in part, because the results can have a profound impact on the subsequent management of this disease. There are now several Food & Drug Administration (FDA) approved therapeutics available for patients with prostate cancer and certain genetic abnormalities - most notably, mutations in DNA damage repair (DDR) pathways such mismatch repair (MMR) and homologous recombination repair (HRR). In this review of the current literature, we discuss the indications for somatic and germline testing, the genetic changes of particular clinical relevance, the associated therapeutic options, and the clinical data supporting their use. We also highlight select trials-in-progress and future directions for the field.
摘要:
基因检测是转移性前列腺癌治疗中不可或缺的一部分,在某种程度上,因为结果会对这种疾病的后续管理产生深远的影响。现在有几种食品和药物管理局(FDA)批准的治疗方法可用于前列腺癌和某些遗传异常的患者-最值得注意的是,DNA损伤修复(DDR)途径中的突变,如错配修复(MMR)和同源重组修复(HRR)。在对当前文献的回顾中,我们讨论体细胞和种系测试的适应症,具有特殊临床相关性的遗传变化,相关的治疗选择,以及支持其使用的临床数据。我们还重点介绍了该领域正在进行的部分试验和未来方向。
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