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遗传性癌症综合征:全面综述及可视化工具

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.

机构信息

CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.

Department of Medicine, University of Udine, 33100 Udine, Italy.

出版信息

Genes (Basel). 2023 Apr 30;14(5):1025. doi: 10.3390/genes14051025.

Abstract

Hereditary cancer syndromes account for nearly 10% of cancers even though they are often underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in terms of pharmacologic treatments, tailored preventive programs, and familiar cascade testing. However, diagnosing a hereditary cancer syndrome could be challenging because of a lack of validated testing criteria or because of their suboptimal performance. In addition, many clinicians are not sufficiently well trained to identify and select patients that could benefit from a genetic test. Herein, we searched the available literature to comprehensively review and categorize hereditary cancer syndromes affecting adults with the aim of helping clinicians in their daily clinical practice through a visual tool.

摘要

遗传性癌症综合征占癌症的近 10%,尽管它们常常被漏诊。发现致病性基因突变可能会对药物治疗、个性化预防方案和家族性连锁测试产生重大影响。然而,由于缺乏经过验证的检测标准或检测性能欠佳,遗传性癌症综合征的诊断可能具有挑战性。此外,许多临床医生没有经过充分的培训,无法识别和选择可能受益于基因检测的患者。在此,我们检索了现有文献,全面回顾和分类了影响成年人的遗传性癌症综合征,旨在通过可视化工具帮助临床医生在日常临床实践中进行诊断。

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