Underhill Meghan L, Germansky Katharine A, Yurgelun Matthew B
Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Clin Ther. 2016 Jul;38(7):1600-21. doi: 10.1016/j.clinthera.2016.03.017. Epub 2016 Apr 2.
Innovations in genetic medicine have led to improvements in the early detection, prevention, and treatment of cancer for patients with inherited risks of gastrointestinal cancer, particularly hereditary colorectal cancer and hereditary pancreatic cancer.
This review provides an update on recent data and key advances that have improved the identification, understanding, and management of patients with hereditary colorectal cancer and hereditary pancreatic cancer.
This review details recent and emerging data that highlight the developing landscape of genetics in hereditary colorectal and pancreatic cancer risk. A summary is provided of the current state-of-the-art practices for identifying, evaluating, and managing patients with suspected hereditary colorectal cancer and pancreatic cancer risk. The impact of next-generation sequencing technologies in the clinical diagnosis of hereditary gastrointestinal cancer and also in discovery efforts of new genes linked to familial cancer risk are discussed. Emerging targeted therapies that may play a particularly important role in the treatment of patients with hereditary forms of colorectal cancer and pancreatic cancer are also reviewed. Current approaches for pancreatic cancer screening and the psychosocial impact of such procedures are also detailed.
Given the availability of new diagnostic, risk-reducing, and therapeutic strategies that exist for patients with hereditary risk of colorectal or pancreatic cancer, it is imperative that clinicians be vigilant about evaluating patients for hereditary cancer syndromes. Continuing to advance genetics research in hereditary gastrointestinal cancers will allow for more progress to be made in personalized medicine and prevention.
基因医学的创新已使遗传性胃肠癌(尤其是遗传性结直肠癌和遗传性胰腺癌)患者在癌症的早期检测、预防和治疗方面得到改善。
本综述提供了关于近期数据和关键进展的最新信息,这些进展改善了遗传性结直肠癌和遗传性胰腺癌患者的识别、理解和管理。
本综述详细介绍了近期和新出现的数据,这些数据突出了遗传性结直肠癌和胰腺癌风险中遗传学的发展态势。总结了当前用于识别、评估和管理疑似遗传性结直肠癌和胰腺癌风险患者的最新技术方法。讨论了新一代测序技术在遗传性胃肠癌临床诊断以及与家族性癌症风险相关新基因发现工作中的影响。还综述了可能在遗传性结直肠癌和胰腺癌患者治疗中发挥特别重要作用的新兴靶向疗法。详细介绍了目前胰腺癌筛查方法以及此类检查的社会心理影响。
鉴于存在针对遗传性结直肠癌或胰腺癌风险患者的新诊断、降低风险和治疗策略,临床医生必须警惕对患者进行遗传性癌症综合征评估。继续推进遗传性胃肠癌的遗传学研究将有助于在个性化医疗和预防方面取得更多进展。