Breast cancer: analysis of driver somatic mutations detected by next-generation sequencing

About authors

1 Genotek Inc., Moscow

2 Karelian Research Centre of the Russian Academy of Sciences, Petrozavodsk, Russia

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

4 Blokhin National Medical Research Center of Oncology, Moscow, Russia

5 Institute of Biomedical Chemistry (IBMC), Moscow, Russia

Correspondence should be addressed: Valery Ilyinsky
Nastavnichesky per., d. 17, str. 1, pod. 14, 15, Moscow, 105120; ur.ketoneg@ofni

About paper

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

All authors' contribution to this work is equal: selection and analysis of literature, research planning, data collection, analysis, and interpretation, drafting of a manuscript, editing.

Received: 2017-12-12 Accepted: 2017-12-22 Published online: 2018-01-24

Breast cancer (BC) is one of the most common malignancies. There is a need for novel approaches to screening for genetic mutations in patients with BC that will help to reduce high mortality rates caused by this disease and improve treatment outcomes. In this study we employed next generation sequencing to screen a few key genes associated with the risk of breast cancer for mutations. We also evaluated their pathogenicity using the previously proposed bioinformatics-based algorithm and analyzed the associations between some of the detected mutations and the clinical manifestations of the disease. Our study recruited 16 female patients with BC (mean age was 50.7 ± 11.3 years). A total of 58 mutations were detected in the oncogenes BRCA1, BRCA2, ATM, CDH1, CHEK2 and TP53. Bioinformatic analysis of the sequencing data revealed 14 mutations that affect the sequence of the encoded proteins. Most deleterious mutations were harbored by the genes BRCA1/2, ATM and TP53.

Keywords: breast cancer, somatic mutation, next-generation sequencing, oncogenes, BRCA1, BRCA2, TP53