Abstract：
OBJECTIVE: The BRCA1/2 mutation status testing is the global standard of care for breast cancer patients with a family history of cancer. BRCA1/2 mutations are known to be ethno-specific. For some ethnic groups of the Northern Asia (Buryats, Yakuts, Altaians, Tuvans, Khakasses, etc.) the founder mutations in the BRCA1/2 genes have not been revealed. This systematic review was conducted to assess the prevalence of BRCA1/2 mutation in breast cancer patients inhabiting Eastern Europe and Northern Asia (or Siberia).
METHODS: A total of 23,561 studies published between 2014 and 2024 were analyzed, of which 55 were included in the review. The literature search was conducted using RusMed, Cyberleninka, Google Scholar, eLibrary, NCBI databases (n=5) and conference papers.
RESULTS: The founder mutations (c.5266dupC and/or c.181T>G) of BRCA1 gene that were frequently observed in the Slav peoples were also identified in Chechens, Armenians, Bashkirs, Ukrainians, Mordovians, Mari, Kabardians, Tatars, Uzbeks, Kyrgyz, Ossetians, Khanty indigenous peoples and Adygs. For Chechens, Kabardians, Ingush, Buryats, Khakasses, Sakha, Tuvans and Armenians, rare pathogenic variants of the BRCA1/2, ATM, СНЕК2, BRIP1, NBN, PTEN, TP53, PMS1, XPA, LGR4, BRWD1 and PALB2 genes were found. No data are available about the frequency of pathogenic BRCA1/2 mutations for ethnic groups, such as the Udmurts, Komi, Tajiks, Tabasarans, and Nogais indigenous people.
CONCLUSIONS: This is the first systematic review that provides the spectrum of BRCA mutations in ethnic groups of breast cancer patients inhabiting Eastern Europe and Northern Asia. It has been shown that the mutations are ethnospecific (varied widely within groups) and not all groups are equally well studied. Further studies on the ethnic specificity of BRCA gene mutations are required.
METHODS: A total of 23,561 studies published between 2014 and 2024 were analyzed, of which 55 were included in the review. The literature search was conducted using RusMed, Cyberleninka, Google Scholar, eLibrary, NCBI databases (n=5) and conference papers.
RESULTS: The founder mutations (c.5266dupC and/or c.181T>G) of BRCA1 gene that were frequently observed in the Slav peoples were also identified in Chechens, Armenians, Bashkirs, Ukrainians, Mordovians, Mari, Kabardians, Tatars, Uzbeks, Kyrgyz, Ossetians, Khanty indigenous peoples and Adygs. For Chechens, Kabardians, Ingush, Buryats, Khakasses, Sakha, Tuvans and Armenians, rare pathogenic variants of the BRCA1/2, ATM, СНЕК2, BRIP1, NBN, PTEN, TP53, PMS1, XPA, LGR4, BRWD1 and PALB2 genes were found. No data are available about the frequency of pathogenic BRCA1/2 mutations for ethnic groups, such as the Udmurts, Komi, Tajiks, Tabasarans, and Nogais indigenous people.
CONCLUSIONS: This is the first systematic review that provides the spectrum of BRCA mutations in ethnic groups of breast cancer patients inhabiting Eastern Europe and Northern Asia. It has been shown that the mutations are ethnospecific (varied widely within groups) and not all groups are equally well studied. Further studies on the ethnic specificity of BRCA gene mutations are required.
摘要：
目的：BRCA1/2突变状态检测是有癌症家族史的乳腺癌患者的全球护理标准。已知BRCA1/2突变是ethno特异性的。对于北亚的一些种族群体(布里亚特，雅库特人,Altaians,Tuvans,卡克斯,等。)BRCA1/2基因的创始人突变尚未透露。这项系统评价旨在评估居住在东欧和北亚（或西伯利亚）的乳腺癌患者中BRCA1/2突变的患病率。
方法：分析了2014年至2024年间发表的23,561项研究，其中55人被列入审查范围。文献检索是使用RusMed进行的，赛博连宁卡,谷歌学者，eLibrary,NCBI数据库（n=5）和会议论文。
结果：在车臣人中也发现了经常在斯拉夫人中观察到的BRCA1基因的创始人突变（c.5266dupC和/或c.181T>G），亚美尼亚人,Bashkirs,乌克兰人,Mordovians,Mari,Kabardians,Ta人,乌兹别克人,吉尔吉斯斯坦,奥塞梯人,Khanty土著人民和Adygs。对于车臣人来说,Kabardians,Ingush,Buryats,卡克斯,萨哈,图凡人和亚美尼亚人，BRCA1/2，ATM的罕见致病变种，》，BRIP1，NBN，PTEN,TP53、PMS1、XPA、发现了LGR4，BRWD1和PALB2基因。没有关于种族的致病性BRCA1/2突变频率的数据，比如Udmurts,科米,塔吉克人,塔巴撒,和Nogais土著人民。
结论：这是第一个系统综述，提供了居住在东欧和北亚的乳腺癌患者族群的BRCA突变谱。已经表明，突变是种族特异性的（在组内差异很大），并且并非所有组都得到了同样的研究。需要进一步研究BRCA基因突变的种族特异性。
方法：分析了2014年至2024年间发表的23,561项研究，其中55人被列入审查范围。文献检索是使用RusMed进行的，赛博连宁卡,谷歌学者，eLibrary,NCBI数据库（n=5）和会议论文。
结果：在车臣人中也发现了经常在斯拉夫人中观察到的BRCA1基因的创始人突变（c.5266dupC和/或c.181T>G），亚美尼亚人,Bashkirs,乌克兰人,Mordovians,Mari,Kabardians,Ta人,乌兹别克人,吉尔吉斯斯坦,奥塞梯人,Khanty土著人民和Adygs。对于车臣人来说,Kabardians,Ingush,Buryats,卡克斯,萨哈,图凡人和亚美尼亚人，BRCA1/2，ATM的罕见致病变种，》，BRIP1，NBN，PTEN,TP53、PMS1、XPA、发现了LGR4，BRWD1和PALB2基因。没有关于种族的致病性BRCA1/2突变频率的数据，比如Udmurts,科米,塔吉克人,塔巴撒,和Nogais土著人民。
结论：这是第一个系统综述，提供了居住在东欧和北亚的乳腺癌患者族群的BRCA突变谱。已经表明，突变是种族特异性的（在组内差异很大），并且并非所有组都得到了同样的研究。需要进一步研究BRCA基因突变的种族特异性。
