Caso Raul, Beamer Matthew, Lofthus Alexander D, Sosin Michael
Department of Surgery, MedStar Georgetown University Hospital, Washington, DC, USA.
Ann Transl Med. 2017 Oct;5(20):399. doi: 10.21037/atm.2017.06.50.
The field of cancer genetics is rapidly evolving and several genetic mutations have been identified in hereditary cancer syndromes. These mutations can be diagnosed via routine genetic testing allowing prompt intervention. This is especially true for certain variants of colorectal, breast, and thyroid cancers where genetic testing may guide surgical therapy. Ultimately, surgical intervention may drastically diminish disease manifestation or progression in individuals deemed as high-risk based on their genetic makeup. Understanding the concepts of gene-based testing and integrating into current surgical practice is crucial. This review addresses common genetic syndromes, tests, and interventions salient to the current surgeon.
癌症遗传学领域正在迅速发展,并且在遗传性癌症综合征中已经发现了几种基因突变。这些突变可以通过常规基因检测进行诊断,从而实现及时干预。对于某些结直肠癌、乳腺癌和甲状腺癌的特定变体而言尤其如此,在这些情况下,基因检测可能会指导手术治疗。最终,手术干预可能会显著减少基于个体基因构成被视为高危人群的疾病表现或进展。理解基于基因检测的概念并将其融入当前的手术实践至关重要。本综述探讨了当前外科医生所关注的常见遗传综合征、检测方法和干预措施。