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

作　　者：周大杨 刘畅[1] 黄鉴[2] 许宁[2] 吉祥 杨可欣 彭继邦 潘海 徐文静 珠珠[1] Dayang Zhou;Chang Liu;Jian Huang;Ning Xu;Xiang Ji;Kexin Yang;Jibang Peng;Hai Pan;Wenjing Xu;Zhu Zhu(Day Surgery Center,the First Affiliated Hospital of Kunming Medical University,Kunming 650032,China;Department of Oncology,the First Affiliated Hospital of Kunming Medical University,Kunming 650032,China;Department of Oncology,Yunnan Provincial Cancer Hospital,Kunming 650118,China)

机构地区：[1]昆明医科大学第一附属医院日间手术中心,650032 [2]昆明医科大学第一附属医院肿瘤科,650032 [3]云南省肿瘤医院肿瘤科,650118

出　　处：《中华结直肠疾病电子杂志》2024年第1期68-71,共4页Chinese Journal of Colorectal Diseases(Electronic Edition)

基　　金：云南省科学技术厅基金(No.202101AT070234)。

摘　　要：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.

关 键 词：结直肠肿瘤 BRCA1基因突变 家系分析 

分 类 号：R735.34[医药卫生—肿瘤]