一例携带BRCA1 p.R166fs新突变位点的结肠癌病例报道

A casereport of BRCA1 p.R166fs mutation in colon cancer

结直肠癌是由复杂的遗传多步骤分子途径引起的。乳腺癌易感基因1(BRCA1)是著名的肿瘤易感基因,其报道多集中在乳腺癌和卵巢癌的遗传易感性方面,但BRCA1胚系突变相关结直肠癌研究还处于起始阶段,其发病原因及机制不详,目前尚无统一、规范的诊治指南。本文报道了1例BRCA1 p.R166fs新突变位点的结肠癌病例,并通过回顾相关的历史文献,对该疾病的发病机制及预后等问题进行了讨论。

Colorectal cancer is caused by a complex genetic multistep molecular pathway.Breast cancer susceptibility gene 1(BRCA1)is a well-known tumor susceptibility gene,and most of its reports focus on the genetic susceptibility of breast cancer and ovarian cancer,but the study of BRCA1 germline mutation-associated colorectal cancer is still in the beginning stage,and its pathogenesis and mechanism are not known,and there is no uniform and standardized diagnosis and treatment guidelines.In this paper,we report a case of colon cancer with a new BRCA1 p.R166fs mutation site,and discuss the pathogenesis and prognosis of this disease by reviewing the relevant historical literature.