全球乳腺癌BRCA1/2突变患者地域分布研究进展  

Research Progress on the Geographical Distribution of BRCA1/2 Mutation Patients in Breast Cancer Worldwide

作　　者：张冰琰 徐立君 史晋宇 吕文豪 赵星瑶 张亚芬[1,2] ZHANG Bingyan;XU Lijun;SHI Jinyu;LYU Wenhao;ZHAO Xingyao;ZHANG Yafen(The Fifth Clinical Medical College of Shanxi Medical University,Taiyuan,030000;Fifth Hospital of Shanxi Medical University,Taiyuan,030000)

机构地区：[1]山西医科大学第五临床医学院,太原030000 [2]山西医科大学第五医院,太原030000

出　　处：《基因组学与应用生物学》2024年第7期1145-1154,共10页Genomics and Applied Biology

基　　金：山西省自然科学基金项目(201901D111428)资助。

摘　　要：乳腺癌易感基因1(breast cancer susceptibility gene 1,BRCA1)和乳腺癌易感基因2(breast cancer susceptibility gene 2,BRCA2)是与遗传性乳腺癌相关的主要基因。目前,关于BRCA1/2种系突变已在人群中被报道,而且不同地域与种族间的突变类型和频率存在很大差异。虽然大多数报道集中于欧美的高加索人,但也有关于亚洲、非洲、南美洲等地区的人群突变谱的报道。本研究旨在综述BRCA1/2的生物学功能以及乳腺癌BRCA1/2突变患者的全球地域分布特点,了解特定种族或地理群体中鉴定出的相对高频的BRCA1/2突变,为不同地域的有效基因检索策略提供信息。Breast cancer susceptibility gene 1(BRCA1)and breast cancer susceptibility gene 2(BRCA2)are the main genes associated with hereditary breast cancer.At present,BRCA1/2 germline mutations have been reported in the population,and the mutation types and frequencies vary greatly among different regions and races.Although most reports focus on Caucasians in Europe and the United States,there are also reports on the population mutation spectrum of Asia,Africa,South America and other regions.This study aims to review the biological function of BRCA1/2 and the global geographical distribution of breast cancer BRCA1/2 mutations,understand the relatively high frequency of BRCA1/2 mutations identified in specific ethnic or geographic groups,and provide information for effective gene search strategies in different regions.

关 键 词：乳腺癌 乳腺癌易感基因1(BRCA1) 乳腺癌易感基因2(BRCA2) 突变 地域 种族 

分 类 号：R737.9[医药卫生—肿瘤]