Department of Gastroenterology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Hereditary Cancer Program, Catalan Institute of Oncology, Oncobell Program, Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, 08908 Barcelona, Spain.
Cells. 2021 Mar 23;10(3):710. doi: 10.3390/cells10030710.
Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10-12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is increasing, despite the observed heterogeneity among countries. Although the cause for such increase remains obscure, ≈13% (range: 9-26%) of EOCRC patients carry pathogenic germline variants in known cancer predisposition genes, including 2.5% of patients with germline pathogenic variants in hereditary cancer genes traditionally not associated with CRC predisposition. Approximately 28% of EOCRC patients have family history of the disease. This article recapitulates current evidence on the inherited syndromes that predispose to EOCRC and its familial component. The evidence gathered support that all patients diagnosed with an EOCRC should be referred to a specialized genetic counseling service and offered somatic and germline pancancer multigene panel testing. The identification of a germline pathogenic variant in a known hereditary cancer gene has relevant implications for the clinical management of the patient and his/her relatives, and it may guide surgical and therapeutic decisions. The relative high prevalence of hereditary cancer syndromes and familial component among EOCRC patients supports further research that helps understand the genetic background, either monogenic or polygenic, behind this increasingly common disease.
早发性结直肠癌（EOCRC）定义为 50 岁以前诊断出的结直肠癌，占所有新发结直肠癌（CRC）诊断的 10-12%。流行病学数据表明，尽管各国之间存在异质性，但 EOCRC 的发病率仍在上升。尽管这种增加的原因仍不清楚，但约 13%（范围：9-26%）的 EOCRC 患者携带已知癌症易感性基因中的致病性种系变异，包括 2.5%的患者携带传统上与 CRC 易感性无关的遗传性癌症基因中的种系致病性变异。约 28%的 EOCRC 患者有家族病史。本文总结了目前关于易患 EOCRC 的遗传性综合征及其家族成分的证据。收集到的证据支持所有诊断为 EOCRC 的患者都应转介至专门的遗传咨询服务，并提供针对体细胞和种系泛癌多基因panel 的检测。在已知的遗传性癌症基因中发现种系致病性变异对患者及其亲属的临床管理具有重要意义，并可能指导手术和治疗决策。EOCRC 患者中遗传性癌症综合征和家族成分的相对高发率支持进一步研究，以帮助了解这种日益常见的疾病背后的遗传背景，无论是单基因还是多基因。
