具有癌症易感种系致病性变异且无个人癌症史的个体的降低风险手术:对当前英国指南的综述。

Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines.

机构信息

University Hospital Southampton NHS Trust, Southampton, UK.

Faculty of Medicine, University of Southampton, Southampton, UK.

出版信息

Br J Cancer. 2023 Aug;129(3):383-392. doi: 10.1038/s41416-023-02296-w. Epub 2023 May 31.

Abstract

Identifying healthy carriers of germline pathogenic variants in high penetrance cancer susceptibility genes offers the potential for risk-reducing surgery. The NHS England National Genomic Test Directory offers germline and somatic testing to patients with certain cancers or rare and inherited diseases, or, in some cases, to their relatives. This review summarises current UK guidelines for risk-reducing surgical interventions available for individuals with no personal history of cancer, who are determined to carry germline pathogenic variants. An electronic literature search of NICE guidelines and PubMed citable articles was performed. NICE guidelines are available for bilateral mastectomy and are currently in development for risk-reducing bilateral salpingo-oophorectomy. Guidelines developed with affiliation to, or through relevant British Surgical Societies or international consensus, are available for risk-reducing hysterectomy, polypectomy, gastrectomy, and thyroidectomy. There is a disparity in the development and distribution of national guidelines for interventions amongst tumour types. Whilst we are focusing on UK guidelines, we anticipate they will be relevant much more generally and so of interest to a wider audience including where there are no national guidelines to refer to. We suggest that, as genetic testing becomes rapidly more accessible, guideline development for interventions should be more closely aligned to those for testing.

摘要

确定高外显率癌症易感性基因中胚系致病性变异的健康携带者,为降低风险的手术提供了可能。英国国民保健制度(NHS)英格兰国家基因组测试目录为某些癌症或罕见遗传性疾病的患者,或在某些情况下为其亲属提供胚系和体细胞检测。本综述总结了目前英国针对无癌症个人史且携带胚系致病性变异个体的可进行的降低风险手术干预的指南。对 NICE 指南和可在 PubMed 中引用的文章进行了电子文献检索。NICE 指南可用于双侧乳房切除术,目前正在制定用于降低风险的双侧输卵管卵巢切除术的指南。与英国外科协会或国际共识有关联,或通过这些组织制定的指南,可用于降低风险的子宫切除术、息肉切除术、胃切除术和甲状腺切除术。肿瘤类型之间的干预措施的国家指南的制定和分布存在差异。虽然我们专注于英国指南,但我们预计它们将更普遍适用,因此更广泛的受众会感兴趣,包括没有参考指南的地区。我们建议,随着基因检测变得更加普及,干预措施的指南制定应更紧密地与检测指南相匹配。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/12b5/10403612/3f35a69aa141/41416_2023_2296_Fig1_HTML.jpg

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