2018 / 06

DOI: 10.24075/brsmu.2018.074

ORIGINAL RESEARCH

Identification of BRCA1/2 mutations in breast cancer patients by next-generation sequencing

Stetsenko IF1, Krasnenko AYu1,2, Stanoevich US3, Mescheryakov AA4, Vorotnikov IK4, Druzhilovskaya OS1, Belova VA1, Churov AV1,5
About authors

1 Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

2 Genotek Inc., Moscow

3 Russian Research Center of Roentgenradiology of the Ministry of Healthcare of the Russian Federation, Moscow

4 Blokhin National Medical Research Center of Oncology, Moscow

5 Institute of Biology, Karelian Research Center of the Russian Academy of Sciences (IB KarRC RAS), Petrozavodsk

Correspondence should be addressed: Alexey V. Churov
Pushkinskaya 11, Petrozavodsk,185910; ur.xednay@uoruhca

About paper

Funding: this work was supported by the Ministry of Education and Science of the Russian Federation (Project ID RFMEFI60716X0152).

Received: 2018-12-03 Accepted: 2018-12-14 Published online: 2018-12-25
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Fig. 1. The spectrum of mutations* affecting post-translational modification sites of proteins (PMT-mutations) in the genes BRCA1 (А) and BRCA2 (B), in patients with breast cancer (n = 39). * — based on mutation effect prediction according to ActiveDriverDB
Table 1. Clinical characteristics of women with breast cancer (n = 66)
Note: Note: the values are in M ± SD or % form; Т 1–3 — tumor stages according to TNM classification; ER — estrogen receptor expression; PR — progesterone receptor expression; HER2/neu (Cerb-B2) — expression of the human epidermal growth factor receptor 2.
Table 2. BRCA1 and BRCA2 mutations identified in patients with BC
Note: 1 — based on histological data; 2 — based on ActiveDriverDB data (https://www.activedriverdb.org/).