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 CT (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 CT 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 (2 = 18.48, d(f) = 1, p 0.0001), the HER2/neo tumor receptor (2 = 5.61, d(f) = 1, p 0.02). The BRCA1 5382insC mutation was more often in the triple negative BC (2 = 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 CT 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.
Highlights
The aim of study is to investigate the frequencies of mutations in BRCA1 5382insC, CHEK2 1100delC and BLM c
We studied 104 young age women with breast cancer
The BRCA1 5382insC mutation was detected in 9.6% of Breast cancer (BC) patients
Summary
Мутации в генах — супрессорах опухолевого роста и их связь с фенотипическими особенностями рака молочной железы у женщин молодого возраста // Экологическая генетика. CC Изучали частоты встречаемости мутаций в генах BRCA1 5382insC (rs80357906), CHEK2 1100delC (rs555607708). For citation: Gordeeva LA, Lojko IL, Voronina EN, et al Mutations in tumor suppressor genes and their relationship with phenotypic features of breast cancer in young age women. The aim of study is to investigate the frequencies of mutations in BRCA1 5382insC (rs80357906), CHEK2 1100delC (rs555607708) and BLM c.1642. Typing of mutations BRCA1 5382insC, CHEK2 1100delC and BLM c.1642. CC Keywords: breast cancer; mutation; BRCA1 gene; CHEK2 gene; BLM gene; tumor phenotype. В настоящее время наиболее востребована ДНК-диагностика мутаций в генах BRCA, CHEK2 и BLM в связи с их высокой частотой встречаемости (3–5 %) в общей популяции российских женщин с РМЖ [8]. Цель работы — изучить частоту встречаемости мутаций в генах BRCA1 5382insC (rs80357906),
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