Medical Oncology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar Viejo, Km 9,100, 28034, Madrid, Spain.
Medical Oncology Department, Hospital Universitario de Burgos, Burgos, Spain.
Clin Transl Oncol. 2020 Feb;22(2):201-212. doi: 10.1007/s12094-019-02272-y. Epub 2020 Jan 24.
In the last 2 decades, clinical genetics on hereditary colorectal syndromes has shifted from just a molecular characterization of the different syndromes to the estimation of the individual risk of cancer and appropriate risk reduction strategies. In the last years, new specific therapies for some subgroups of patients have emerged as very effective alternatives. At the same time, germline multigene panel testing by next-generation sequencing (NGS) technology has become the new gold standard for molecular genetics.
在过去的 20 年里，遗传性结直肠综合征的临床遗传学研究已经从对不同综合征的分子特征描述，转变为对个体癌症风险的评估和适当的降低风险策略。近年来，针对某些亚组患者的新的特定治疗方法已成为非常有效的替代方法。与此同时，下一代测序（NGS）技术的种系多基因panel 检测已成为分子遗传学的新标准。
