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Spectrum of mutations of the BRCA1, BRCA2, CHEK2 and PALB2 genes in breast cancer
https://doi.org/10.25557/2073-7998.2024.11.3-17
Abstract
Hereditary breast cancer appears in 5-10% all breast cancers and manifests in founder mutations (mutations, which charachterised particular region). The article goal: to detail information about populatiom polymorphisms (ethnic polymorphisms) genes predisposition to hereditary breast cancer: BRCA1/2, CHEK2 and PALB2 for applying the markers of these genes in medical practice. These genes contain the highest quantity of pathogenic mutations correspondingly the data base oncoBRCA.com. Searching the literature was conducted in web base data: MEDLINE, Scopus, Web of Science, ClinVar, Cancer Tomorrow and Global cancer observatory. In the world population of patients with breast cancer are quantity and quality differencies of polymorphisms in genes BRCA1 and BRCA2. It has developed the standart the PCR-panel from eight mutations in BRCA1/2 genes which can found in patients with clinical features of hereditary breast cancer in Russia (slavic population) (5382insC, 4153delA, 185delAG, 3819delGTAAA, 3875delGTCT, 300T>G, 2080delA BRCA1; gene 6174delT BRCA2 gene)). Also frequency and quality of the polymorphiysms in the world populations can be different in CHEK2 and PALB2 genes. The review can be useful for medical geneticist and molecular biologists in applying the information about possibility the testing of the mutaions some genes for effective diagnostics of the hereditary breast cancer when patients can be different content (different populations).
Supporting agencies: The study was carried out with the financial support of the Ministry of Science and Higher Education of Russia under state assignment No. FZEG-2020-0060.
About the Authors
A. V. Kamysheva
V.I. Vernadsky Crimean Federal University
Russian Federation
Russian Federation
Anastasiya V. Kamysheva
4, Academician Vernadsky Avenue, Simferopol, 4295007, Republic of Crimea
A. V. Kubyshkin
V.I. Vernadsky Crimean Federal University
Russian Federation
Russian Federation
K. A. Aliev
V.I. Vernadsky Crimean Federal University
Russian Federation
Russian Federation
I. I. Fomochkina
V.I. Vernadsky Crimean Federal University
Russian Federation
Russian Federation
D. I. Vodolazhsky
V.I. Vernadsky Crimean Federal University
Russian Federation
Russian Federation
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For citations:
Kamysheva A.V., Kubyshkin A.V., Aliev K.A., Fomochkina I.I., Vodolazhsky D.I. Spectrum of mutations of the BRCA1, BRCA2, CHEK2 and PALB2 genes in breast cancer. Medical Genetics. 2024;23(11):3-17. (In Russ.) https://doi.org/10.25557/2073-7998.2024.11.3-17
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