PARP抑制剂时代同源重组缺陷的生物标志物

C. Piombino, L. Cortesi
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引用次数: 1

摘要

同源重组缺陷(HRD)最初在BRCA1和BRCA2种系突变的癌症中被描述,随后在散发和遗传性癌症中携带与HR相关的其他基因的突变或表观遗传失活。由于携带HRD的癌症特别容易受到PARP抑制剂(PARPi)的影响,因此确定能够准确预测BRCA1/2突变以外的PARPi临床敏感性的HRD检测方法一直具有挑战性。在这篇综述中,我们描述了迄今为止鉴定的HRD生物标志物,指出了每个相关检测的优势和劣势。
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Biomarkers of Homologous Recombination Deficiency in the era of PARP inhibitors
Homologous Recombination Deficiency (HRD) was initially described in cancers with germline muta-tions of BRCA1 and BRCA2 and thereafter in both sporadic and hereditary cancers carrying muta-tions or epigenetic inactivation of other genes in-volved in HR. Since cancers harbouring HRD are particularly susceptible to PARP inhibitors (PARPi), identifying methods to detect HRD that can accu-rately predict clinical sensitivity to PARPi beyond BRCA1/2 mutations has been challenging. In this review, we describe the HRD biomarkers identified up to now, pointing out strengths and weakness-es of each associated assay.
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