Genotyping of BRCA1, BRCA2, and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips

Autor:	T P Kazubskaia, Alexander S. Zasedatelev, S M Portnoĭ, M A Emel'ianova, T. V. Nasedkina, Liubchenko Ln, O. E. Gromyko, E O Ignatova
Rok vydání:	2014
Předmět:	Mutation medicine.diagnostic_test Biophysics Biology medicine.disease BRCA2 Protein medicine.disease_cause Breast cancer Germline mutation Structural Biology medicine Cancer research skin and connective tissue diseases CHEK2 Genotyping Techniques Genotyping Genetic testing
Zdroj:	Molecular Biology. 48:207-213
ISSN:	1608-3245 0026-8933
Popis:	Germline mutations of BRCA1/2 genes cause the predisposition of their carriers to breast or/and ovary cancers (BC or/and OC) during the lifetime. Identification of these mutations is a basis of molecular diagnosis for BC susceptibility. Rapid genotyping technique using microarrays for identification of BRCA1 185delAG, 300T>G, 4153delA, 5382insC mutations and 4158 A>G sequence variant; BRCA2 695insT and 6174delT mutations; 1100delC mutation in CHEK2 gene was applied for 412 randomly collected breast cancer samples from the central region of European area of Russia. In 25 (6.0%) patients (6.0%) BC was associated with other tumours: OC, cervical cancer, colorectal cancer etc. BRCA1/2 and CHEK2 mutations were found in 33 (8.0%) BC patients. The most frequent mutation was BRCA1 5382insC, occurred in 16 (3.9%) BC patients, and CHEK2 1100delC, revealed in 7 (1.7%) BC patients. An application of diagnostic BC-microarray for genetic testing of BRCA1/2 and CHEK2 founder mutations has been discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e2273fd7315b621307be9227ed8246c3 https://doi.org/10.1134/s0026893314020149 Zobrazit plný text záznamu Full text from SpringerLink