Ethnic Features of Genetic Susceptibility to Breast Cancer
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...
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Published in | Russian journal of genetics Vol. 54; no. 2; pp. 226 - 234 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Moscow
Pleiades Publishing
01.02.2018
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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ISSN: | 1022-7954 1608-3369 |
DOI: | 10.1134/S1022795418020047 |