Pereira Flávio, Teixeira Manuel R, Dinis Ribeiro Mário, Brandão Catarina
Department of Gastroenterology, Amato Lusitano Hospital, Castelo Branco, Portugal.
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
GE Port J Gastroenterol. 2021 Feb 4;28(6):403-409. doi: 10.1159/000513966. eCollection 2021 Nov-Dec.
Genetic testing aims to identify patients at risk for inherited cancer susceptibility. In the last decade, there was a significant increase in the request of broader panels of genes as multi-gene panel testing became widely available. However, physicians may be faced with genetic findings for which there is lack of management evidence, despite some progress in understanding their clinical relevance. In this short review, we discuss the advantages and the drawbacks related to multi-gene panel testing in the setting of a Gastrointestinal Familial Cancer Risk clinic. We also summarize the available recommendations on management of pathogenic variant carriers.
基因检测旨在识别有遗传性癌症易感性风险的患者。在过去十年中，随着多基因panel检测广泛可用，对更广泛基因panel的检测需求显著增加。然而，尽管在理解其临床相关性方面取得了一些进展，但医生可能会面临缺乏管理证据的基因检测结果。在这篇简短的综述中，我们讨论了在胃肠道家族性癌症风险诊所中与多基因panel检测相关的优缺点。我们还总结了关于致病性变异携带者管理的现有建议。
