Ethnic Features of Genetic Susceptibility to Breast Cancer

被引：0

作者：

Bermisheva, M. A. ^{[1
]}

Bogdanova, N. V. ^{[2
]}

Gilyazova, I. R. ^{[1
]}

Zinnatullina, G. F. ^{[3
]}

Bisultanova, Z. I. ^{[4
]}

Khusnutdinova, E. K. ^{[1
,5
]}

机构：

[1] Russian Acad Sci, Inst Biochem & Genet, Ufa Sci Ctr, Ufa 450054, Russia

[2] Hannover Med Sch, D-30625 Hannover, Germany

[3] Republican Clin Oncol Ctr, Ufa 450000, Russia

[4] Chechen State Univ, Dept Cell Biol Morphol & Microbiol, Grozny 364093, Russia

[5] Bashkir State Univ, Dept Genet & Fundamental Med, Ufa 450076, Russia

来源：

RUSSIAN JOURNAL OF GENETICS | 2018年 / 54卷 / 02期

基金：

俄罗斯基础研究基金会;

关键词：

breast cancer; genes; mutations; genetic susceptibility; populations; Republic of Bashkortostan; HIGH-FREQUENCY; MUTATIONS; BRCA1; RISK; PALB2; PREVALENCE; ATM; FAMILIES; BLM; CHEK2-ASTERISK-1100DELC;

D O I：

10.1134/S1022795418020047

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The results of screening for BRCA1, BRCA2, ATM, NBN, CHEK2, PALB2, BLM gene mutations in 1000 breast cancer (BC) patients from the Republic of Bashkortostan (RB) are presented. Germline mutations in these genes accounted for 7.5% of breast cancer patients. The wide spectrum of mutations was found in women of Slavic origin, including: c.5266dupC, c.181T > G, and c.4034delA in BRCA1; c.5932G > T in ATM; c.657_661del5 in NBN; c.444+1G > A, c.1100delC, and dele9,10(5kb) in CHEK2; c.509_510delGA and c.172_175delTTGT in PALB2; and c.1642C > T in BLM gene.

引用

页码：226 / 234

页数：9

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