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.
Research Progress on the Geographical Distribution of BRCA1/2 Mutation Pa-tients in Breast Cancer Worldwide
Breast cancer susceptibility gene 1(BRCA1)and breast cancer susceptibility gene 2(BRCA2)are the main genes associat-ed 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 U-nited 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,under-stand 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.
Breast cancerBreast cancer susceptibility gene 1(BRCA1)Breast cancer susceptibility gene 2(BRCA2)MutationTer-ritoryEthnicity
NETL
NSTL
万方数据
