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The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia. / Anisimenko, M. S.; Paul, G. A.; Kozyakov, A. E. et al.

In: Siberian Journal of Oncology, Vol. 17, No. 4, 01.01.2018, p. 53-58.

Research output: Contribution to journal › Article › peer-review

Harvard

Anisimenko, MS, Paul, GA, Kozyakov, AE, Gutkina, NI, Berdyugina, DA, Garanin, AY, Butorina, AV, Gornostaeva, EV, Khafizov, KF, Vyatkin, YV, Shtokalo, DN & Kovalenko, SP 2018, 'The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia', Siberian Journal of Oncology, vol. 17, no. 4, pp. 53-58. https://doi.org/10.21294/1814-4861-2018-17-4-53-58

APA

Anisimenko, M. S., Paul, G. A., Kozyakov, A. E., Gutkina, N. I., Berdyugina, D. A., Garanin, A. Y., Butorina, A. V., Gornostaeva, E. V., Khafizov, K. F., Vyatkin, Y. V., Shtokalo, D. N., & Kovalenko, S. P. (2018). The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia. Siberian Journal of Oncology, 17(4), 53-58. https://doi.org/10.21294/1814-4861-2018-17-4-53-58

Vancouver

Anisimenko MS, Paul GA, Kozyakov AE, Gutkina NI, Berdyugina DA, Garanin AY et al. The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia. Siberian Journal of Oncology. 2018 Jan 1;17(4):53-58. doi: 10.21294/1814-4861-2018-17-4-53-58

Author

Anisimenko, M. S. ; Paul, G. A. ; Kozyakov, A. E. et al. / The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia. In: Siberian Journal of Oncology. 2018 ; Vol. 17, No. 4. pp. 53-58.

BibTeX

@article{b3157a01f96043b3a7340ce094698fb4,
title = "The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia",
abstract = "Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients. Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients carried 5382insC mutation, described earlier as a founder mutation for Slavic population. Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X, 4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with unknown clinical significance were detected in BRCA1 gene among 445 early onset breast cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients.",
keywords = "BRCA1 gene, Early onset breast cancer, Hereditary cancer, Mutation, NGS, Targeted sequencing",
author = "Anisimenko, {M. S.} and Paul, {G. A.} and Kozyakov, {A. E.} and Gutkina, {N. I.} and Berdyugina, {D. A.} and Garanin, {A. Yu} and Butorina, {A. V.} and Gornostaeva, {E. V.} and Khafizov, {K. F.} and Vyatkin, {Yu V.} and Shtokalo, {D. N.} and Kovalenko, {S. P.}",
year = "2018",
month = jan,
day = "1",
doi = "10.21294/1814-4861-2018-17-4-53-58",
language = "English",
volume = "17",
pages = "53--58",
journal = "Siberian Journal of Oncology",
issn = "1814-4861",
publisher = "Tomsk National Research Medical Center of the Russian Academy of Sciences",
number = "4",

}

RIS

TY - JOUR

T1 - The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia

AU - Anisimenko, M. S.

AU - Paul, G. A.

AU - Kozyakov, A. E.

AU - Gutkina, N. I.

AU - Berdyugina, D. A.

AU - Garanin, A. Yu

AU - Butorina, A. V.

AU - Gornostaeva, E. V.

AU - Khafizov, K. F.

AU - Vyatkin, Yu V.

AU - Shtokalo, D. N.

AU - Kovalenko, S. P.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients. Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients carried 5382insC mutation, described earlier as a founder mutation for Slavic population. Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X, 4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with unknown clinical significance were detected in BRCA1 gene among 445 early onset breast cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients.

AB - Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients. Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients carried 5382insC mutation, described earlier as a founder mutation for Slavic population. Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X, 4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with unknown clinical significance were detected in BRCA1 gene among 445 early onset breast cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients.

KW - BRCA1 gene

KW - Early onset breast cancer

KW - Hereditary cancer

KW - Mutation

KW - NGS

KW - Targeted sequencing

UR - http://www.scopus.com/inward/record.url?scp=85054907074&partnerID=8YFLogxK

U2 - 10.21294/1814-4861-2018-17-4-53-58

DO - 10.21294/1814-4861-2018-17-4-53-58

M3 - Article

AN - SCOPUS:85054907074

VL - 17

SP - 53

EP - 58

JO - Siberian Journal of Oncology

JF - Siberian Journal of Oncology

SN - 1814-4861

IS - 4

ER -

ID: 17141915