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老年人群中的遗传性癌症易感性综合征。

Genetic cancer predisposition syndromes among older adults.

作者信息

Chavarri-Guerra Yanin, Slavin Thomas P, Longoria-Lozano Ossian, Weitzel Jeffrey N

机构信息

Department of Hemato-Oncology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Department of Medical Oncology, Division of Clinical Cancer Genomics, City of Hope Comprehensive Cancer Center, Duarte, CA, USA.

出版信息

J Geriatr Oncol. 2020 Sep;11(7):1054-1060. doi: 10.1016/j.jgo.2020.01.001. Epub 2020 Jan 21.

Abstract

Earlier age at onset is one characteristic of hereditary cancer syndromes, so most studies of genetic testing have focused on young patients with cancer. However, recent studies of multigene panel tests in unselected cancer populations have detected a considerable proportion of older patients with germline pathogenic variants (PVs) in cancer susceptibility genes. As the number of older patients with cancer continues to rise, clinicians should be aware of genetic/genomic cancer risk assessment (GCRA) criteria in both young and older adults. Identifying individuals with a germline PV in a cancer susceptibility gene may be important for precision therapy of current cancers and screening and prevention of new primary cancers, as well as cascade testing to identify high cancer risks for family members. Typically, hereditary predisposition germline genetic testing has been recommended for patients with early onset cancers and/or a family history of cancer. However, more recently international guidelines recommend testing for potential therapeutic intervention regardless of age for some tumors frequently seen in older patients, such as epithelial ovarian, pancreatic, and metastatic prostate and breast cancers. GCRA in older patients may present challenges including: clonal hematopoiesis (CH) confounding test interpretation, ethical aspects (autonomy, nonmaleficence, beneficence), patient health status, comorbidities, as well as lack of insurance coverage. These factors should be considered during genetic counseling and when considering cancer screening and risk reduction procedures. This manuscript reviews available data on common hereditary cancer syndromes in older patients and provides tools to help providers perform GCRA in this population.

摘要

发病年龄较早是遗传性癌症综合征的一个特征,因此大多数基因检测研究都集中在年轻的癌症患者身上。然而,最近对未选择的癌症人群进行的多基因检测研究发现,相当一部分老年患者在癌症易感基因中存在种系致病性变异(PVs)。随着老年癌症患者数量的持续增加,临床医生应该了解年轻人和老年人的遗传/基因组癌症风险评估(GCRA)标准。识别癌症易感基因中存在种系PV的个体,对于当前癌症的精准治疗、新原发性癌症的筛查和预防以及为家庭成员进行级联检测以识别高癌症风险可能都很重要。通常,对于发病较早的癌症患者和/或有癌症家族史的患者,建议进行遗传性易感性种系基因检测。然而,最近国际指南建议,对于老年患者中常见的一些肿瘤,如上皮性卵巢癌、胰腺癌以及转移性前列腺癌和乳腺癌,无论年龄大小,都应进行检测以进行潜在的治疗干预。老年患者的GCRA可能面临挑战,包括:克隆性造血(CH)混淆检测结果解读、伦理问题(自主性、不伤害原则、有利原则)、患者健康状况、合并症以及缺乏保险覆盖。在遗传咨询以及考虑癌症筛查和风险降低程序时,应考虑这些因素。本文综述了老年患者常见遗传性癌症综合征的现有数据,并提供了帮助医疗服务提供者对该人群进行GCRA的工具。

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