ORIGINAL RESEARCH

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

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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Breast cancer is one of the most widespread forms of solid tumors. By analyzing the traits of breast cancer pathogenesis at the molecular level using modern genetic analysis techniques and at different stages of the disease new data can be obtained to be further utilized in clinical practice. Molecular profiling based on next-generation sequencing is being increasingly applied as a clinical test to select target drugs for treating breast cancer patients with tumors highly resistant to therapy. In this study, we performed targeted sequencing of BRCA1 and BRCA2 oncogenes. In the total of 66 DNA samples from patients with breast tumors, BRCA1/2 mutations were found in 39 patients. There were 78 unique genetic variants, including 30 mutations in BRCA1 and 48 mutations in BRCA2. We identified 33 mutations affecting the sites of post-translational modification in proteins (PMT mutations).

Keywords: breast cancer, NGS, mutation, BRCA1, BRCA2, personalized medicine, DNA-sequencing

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