Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients
Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients
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DOI：
10.1016/j.ejca.2016.10.006
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发表时间：
2016-12-01
影响因子：
8.4
通讯作者：
Colombo, Nicoletta
中科院分区：
文献类型：
--
作者：
Vergote, Ignace;Banerjee, Susana;Colombo, Nicoletta
传统上，BRCA 基因检测是为了识别患者及其家庭成员未来患癌症的风险，并根据家族史转诊患者进行检测。然而，现在人们认识到卵巢癌 (OC) 患者（即使是没有已知家族史的患者）携带 BRCA1/2 突变的风险，加上第一个聚腺苷二磷酸核糖聚合酶抑制剂（PARPi；奥拉帕尼 [Lynparza]）被许可用于治疗 BRCA 突变的 OC，导致人们重新考虑 OC 患者的转诊标准。本文回顾了欧盟现有数据和指南，涉及转诊 OC 患者进行 BRCA 基因检测的建议和注意事项。根据对新更新指南和最新证据的审查，建议如下：所有患有侵袭性上皮 OC（不包括交界性或粘液性）的患者，包括患有输卵管癌和腹膜癌的患者，无论年龄如何，都应被视为转诊进行 BRCA 基因检测的候选人；理想情况下，应在诊断时提供基因检测，尽管患者可以在任何阶段转诊；由于对家庭成员和个人未来患乳腺癌风险的影响，应为长期随访的患者提供回顾性检测；首先应进行血液/唾液样本的种系 BRCA 检测，如果呈阴性，则应对肿瘤组织进行检测（以确定非种系 [体细胞] BRCA PARPi 候选疗法）。 (C) 2016 Elsevier Ltd. 保留所有权利。
Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family history, harbouring a mutation in BRCA1/2, together with the first poly adenosine diphosphate ribose polymerase inhibitor (PARPi; olaparib [Lynparza]) being licenced for the treatment of BRCA-mutated OC, has led to reconsideration of referral criteria for OC patients. Provided here is a review of the existing data and guidelines in the European Union, relating to recommendations, as well as considerations, for the referral of OC patients for BRCA genetic testing. Based on this review of newly updated guidance and up-to-date evidence, the following is recommended: all patients with invasive epithelial OC (excluding borderline or mucinous), including those with fallopian tube and peritoneal cancers, should be considered as candidates for referral for BRCA genetic testing, irrespective of age; genetic testing should ideally be offered at diagnosis, although patients can be referred at any stage; retrospective testing should be offered to patients in long-term follow-up because of the implications for family members and individual future breast cancer risk; and germline BRCA testing of a blood/saliva sample should initially be conducted and, if negative, tumour tissue should be tested (to identify non-germline [somatic] BRCA PARPi therapy candidates). (C) 2016 Elsevier Ltd. All rights reserved.