Mutations in tumor suppressor genes and their relationship with phenotypic features of breast cancer in young age women

Abstract

Background. Breast cancer (BC) is the most common oncological disease in women in the world. The aim of study is to investigate the frequencies of mutations in BRCA1 5382insC (rs80357906), CHEK2 1100delC (rs555607708) and BLM c.1642 C>T (rs200389141) genes and their relationship with the phenotypic features of BC in 104 young age women.

Materials and methods. We studied 104 young age women with breast cancer. Typing of mutations BRCA1 5382insC, CHEK2 1100delC and BLM c.1642 C>T genes were performed by real-time PCR followed by melting analysis.

Results. The BRCA1 5382insC mutation was detected in 9.6% of BC patients. The BRCA1 5382insC mutation was correlated with the lack of expression of estrogen receptors (χ2 = 18.48, d(f) = 1, p < 0.0001), the HER2/neo tumor receptor (χ2 = 5.61, d(f) = 1, p < 0.02). The BRCA1 5382insC mutation was more often in the “triple negative” BC (χ2 = 17.42, d(f) = 3, p < 0.001). Luminal A subtype of disease was observed the predominantly in non-carriers of the mutation BRCA1 5382insC (sporadic breast cancer). The founder mutations in the CHEK2 1100delC and BLM c.1642 C>T genes were absent in young age women with BC.

Conclusion. Our results confirm the high significance of detecting the BRCA1 rs80357906 mutation in young age women with BC for optimization of treatment tactic and for early diagnosis of BC.

Keywords

breast cancer / mutation / BRCA1 gene / CHEK2 gene / BLM gene / tumor phenotype

RIGHTS & PERMISSIONS

Gordeeva L.A., Lojko I.E., Voronina E.N., Kutonova E.E., Polenok E.G., Mun S.A., Verzhbitskaja N.E., Vasilchenko I.L., Filipenko M.L., Glushkov A.N.