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家族性结直肠癌。

Familial colorectal cancer.

机构信息

Servicio de Medicina Digestiva, Hospital General Universitario de Alicante, Instituto de Investigación Biomédica ISABIAL, Universidad Miguel Hernández, Alicante, Spain.

Servicio de Medicina Digestiva, Hospital General Universitario de Alicante, Instituto de Investigación Biomédica ISABIAL, Universidad Miguel Hernández, Alicante, Spain.

出版信息

Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101798. doi: 10.1016/j.bpg.2022.101798. Epub 2022 Mar 25.

Abstract

The introduction of average-risk colorectal cancer (CRC) screening programs means that many subjects with family history of CRC and without well-described inherited syndromes can benefit from these public health policies. Therefore, the definition of which individuals should be named under the umbrella of the term "familial CRC" should be reconsidered to include only those who are outside of the protection of population-based screening and need to be moved towards a more intensive surveillance strategy. Two subgroups have been reported as having a high enough CRC risk to be included within the term "familial risk of CRC": individuals who have ≥1 first degree relative (FDR) with CRC diagnosed at age <50 years, and those who have ≥2 FDRs with CRC. Colonoscopy-based screening starting at age 40 years is proposed as the most accepted recommendation for these individuals. Finally, the evolution of Lynch syndrome screening from clinical criteria to tumor tissue analysis and new tools for screening pathogenic gene mutations associated with cancer susceptibility in individuals with early-onset CRC might help to reduce misclassification of familial CRC.

摘要

结直肠癌(CRC)的平均风险筛查项目的引入意味着,许多有结直肠癌家族史且无明确遗传性综合征的受试者可以受益于这些公共卫生政策。因此,应该重新考虑将哪些个体归入“家族性 CRC”这一术语的范畴,仅包括那些不在人群筛查保护范围内且需要采取更密集监测策略的个体。有两个亚组被报道具有足够高的 CRC 风险,应归入“CRC 的家族性风险”范畴:一级亲属(FDR)中有≥1 人在<50 岁时被诊断患有 CRC,或有≥2 个 FDR 患有 CRC。建议对这些个体进行基于结肠镜检查的筛查,起始年龄为 40 岁。最后,林奇综合征筛查从临床标准到肿瘤组织分析的演变,以及用于筛查与早发性 CRC 相关的癌症易感性的致病性基因突变的新工具,可能有助于减少家族性 CRC 的分类错误。

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