Poly(ADP-ribose)polymerase (PARP) inhibitors are targeted therapy for cancers with homologous repair deficiency (HRD). They were first approved for ovarian cancer and have changed current treatment strategies. They have also demonstrated efficacy in HER2-negative metastatic breast cancer and advanced prostate cancer with BRCA1/2 or ATM mutations. Patients with somatic and/or germline BRCA1/2 mutations benefit more from these treatments than other patients. Nowadays, the diagnosis of HRD is largely based on germline genetic testing, which is performed after an in-person genetic counseling session, even for patients without any family history of cancer. However, with the increasing number of PARP inhibitor indications across different tumor types, rapid access to oncogenetic consultations will become a challenge. To meet this demand, tumor genomic testing could be offered at initial diagnosis. Telephone counseling and other referral systems could replace in-person consultations for certain subgroups of patients deemed to have a low risk of harboring a germline mutation. This article reviews international guidelines for genetic counseling testing. We herein propose new care pathways for breast, prostate and ovarian cancers, including tumor genomic testing at initial diagnosis in order to help triage genetic counseling referrals.

中文翻译：

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在PARP抑制剂时代，如何以及何时推荐患者进行致癌遗传咨询。

聚（ADP-核糖）聚合酶（PARP）抑制剂是针对具有同源修复缺陷（HRD）的癌症的靶向治疗。他们首先被批准用于卵巢癌，并且改变了当前的治疗策略。他们还证明了具有BRCA1 / 2或ATM突变的HER2阴性转移性乳腺癌和晚期前列腺癌的疗效。具有体细胞和/或种系BRCA1 / 2突变的患者比其他患者受益于这些治疗。如今，HRD的诊断主要基于种系遗传学检测，该检测是在面对面的遗传咨询后进行的，即使对于没有任何家族史的患者也是如此。然而，随着跨不同肿瘤类型的PARP抑制剂适应症越来越多，快速进入致癌咨询将成为一个挑战。为了满足这个需求 可以在初诊时提供肿瘤基因组测试。电话咨询和其他转诊系统可以代替对某些认为具有种系突变风险的患者亚组的面对面咨询。本文回顾了遗传咨询测试的国际准则。本文旨在为乳腺癌，前列腺癌和卵巢癌提出新的治疗途径，包括在初始诊断时进行肿瘤基因组检测，以帮助分流遗传咨询。