New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin
| Autor: | N. Cherdyntseva, Evgeny Choynzonov, A. Molokov, Polina Gervas, Anastasia A Schegoleva, Artem Kiselev, Lubov Pisareva, Yury Tyukalov, Nataliya Babyshkina |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Breast Neoplasms Mongoloid Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Breast cancer Germline mutation Asian People Genetics medicine PTEN Humans Family history Stomach cancer Molecular Biology CHEK2 Germ-Line Mutation biology BRIP1 PTEN Phosphohydrolase General Medicine Middle Aged medicine.disease DNA-Binding Proteins Siberia 030104 developmental biology 030220 oncology & carcinogenesis biology.protein Female |
| Zdroj: | Molecular biology reports. 47(7) |
| ISSN: | 1573-4978 |
| Popis: | In accordance with the Asian BRCA Consortium data, there is a significant difference in incidence rate of breast cancer depending on age, as well as spectrum and prevalence of BRCA1/2 mutations between Mongoloid (East Asian) and Caucasoid (European) people. However, European strategies to identify familial BC are still applied to the Asian population, including Russian Mongoloids (Khakas, Buryats, Tyvans and Yakuts and others). The main purpose of the study was to identify molecular changes associated with hereditary BC in Russian Mongoloid BC patients (Buryats). Thirty-nine patients were included in the study. Genomic DNA extracted from lymphocytes was used to prepare DNA-libraries. Target sequencing was designed to cover 27 genes, such as ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 and others. Paired-end sequencing (2 × 150 bp) was conducted on a NextSeq 500 system (Illumina, USA). Three pathogenic mutations in non-BRCA genes were found (prevalence of 8%). The pathogenic mutations were found in the RAD51D and PTEN genes. The pathogenic variant in the RAD51D gene (rs137886232, NC_000017.10:g.33428366G>A, p.R141X) was observed in two unrelated individuals aged under 40. One of these patients had a family history of late-onset stomach cancer in second-degree relatives. The pathogenic mutation in the PTEN gene (rs786201044, NC_000010.10:g.89692922T>C, p.C136R) was observed in a 38 years old breast cancer patient with no family history. In our study, we first describe pathogenic mutations in RAD51D and PTEN genes found in young Buryat patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink