Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg

Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St.... Ten variants different from the canonical nucleotide sequence (GenBank, U14680) has been identified when studying the mutation spectrum in gene BRCA1. Six of them (5382insC, 2963del10, 3819del5, 3875del4, 2274insA, and R1203X) cause premature termination of protein synthesis, thus predisposing to breast cancer. A missense mutation E1250K is presumed to be a factor of predisposition to cancer. We classified three variants of nucleotide sequence found in a number patients as DNA polymorphisms S694S, L771L, and E1038G. The 5382insC and 3819del5 mutations have been recorded in four and two families, respectively. Five of the mutations detected have not been found in Russia before. However, all mutations except for 2963del10 have been found in other populations of the world, which indicates their long evolutionary history. Two mutations found in patients from St. Petersburg (5382insC and 3875del4) have also been found in oncological patients from other regions of the Russian Federation. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg

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Publisher
Springer Journals
Copyright
Copyright © 2005 by MAIK “Nauka/Interperiodica”
Subject
Biomedicine; Human Genetics; Microbial Genetics and Genomics; Animal Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1007/s11177-005-0091-z
Publisher site
See Article on Publisher Site

Abstract

Ten variants different from the canonical nucleotide sequence (GenBank, U14680) has been identified when studying the mutation spectrum in gene BRCA1. Six of them (5382insC, 2963del10, 3819del5, 3875del4, 2274insA, and R1203X) cause premature termination of protein synthesis, thus predisposing to breast cancer. A missense mutation E1250K is presumed to be a factor of predisposition to cancer. We classified three variants of nucleotide sequence found in a number patients as DNA polymorphisms S694S, L771L, and E1038G. The 5382insC and 3819del5 mutations have been recorded in four and two families, respectively. Five of the mutations detected have not been found in Russia before. However, all mutations except for 2963del10 have been found in other populations of the world, which indicates their long evolutionary history. Two mutations found in patients from St. Petersburg (5382insC and 3875del4) have also been found in oncological patients from other regions of the Russian Federation.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Apr 12, 2005

References

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