KFU. Card publication. Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes--a Single Center Experience

KAZAN
FEDERAL UNIVERSITY

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MASSIVE PARALLEL SEQUENCING FOR DIAGNOSTIC GENETIC TESTING OF BRCA GENES--A SINGLE CENTER EXPERIENCE

Form of presentation

Articles in international journals and collections

Year of publication

2015

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Authors, employees of KFU

Mazitova Aleksandra Maratovna, author

Other authors

Boyarskikh Ulyana Aleksandrovna, author

Ermolenko Natalya Aleksandrovna, author

Kechin Andrey Andreevich, author

Filipenko Maksim Leonidovich, author

Khrapov Evgeniy Aleksandrovich, author

Authors, postgraduates KFU

Mazitova Aleksandra Maratovna, postgraduate kfu

Bibliographic description in the original language

Ermolenko N.A. Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes--a Single Center Experience / N.A. Ermolenko, U.A. Boyarskikh, A.A. Kechin, A.M. Mazitova, E.A. Khrapov, V.D. Petrova, A.F. Lazarev, N.E. Kushlinskii, M.L. Filipenko // Asian Pac J Cancer Prev. -2015.- V.16(17).- P.7935-41.

Annotation

Asian Pacific Journal of Cancer Prevention

Keywords

Amplicon sequencing, massive parallel sequencing, diagnostics, BRCA, NGS

The name of the journal

Asian Pacific Journal of Cancer Prevention

URL

http://journal.waocp.org/?sid=Entrez:PubMed&id=pmid:26625824&key=2015.16.17.7935

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=161002&p_lang=2

Resource files

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Massive_Parallel_Sequencing_for_Diagnostic_Genetic_Testing_of_BRCA_Genes__a_Single_Center_Experience.pdf	0,48	pdf	show / download

Full metadata record

Field DC	Value	Language
dc.contributor.author	Mazitova Aleksandra Maratovna	ru_RU
dc.contributor.author	Boyarskikh Ulyana Aleksandrovna	ru_RU
dc.contributor.author	Ermolenko Natalya Aleksandrovna	ru_RU
dc.contributor.author	Kechin Andrey Andreevich	ru_RU
dc.contributor.author	Filipenko Maksim Leonidovich	ru_RU
dc.contributor.author	Khrapov Evgeniy Aleksandrovich	ru_RU
dc.contributor.author	Mazitova Aleksandra Maratovna	ru_RU
dc.date.accessioned	2015-01-01T00:00:00Z	ru_RU
dc.date.available	2015-01-01T00:00:00Z	ru_RU
dc.date.issued	2015	ru_RU
dc.identifier.citation	Ermolenko N.A. Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes--a Single Center Experience / N.A. Ermolenko, U.A. Boyarskikh, A.A. Kechin, A.M. Mazitova, E.A. Khrapov, V.D. Petrova, A.F. Lazarev, N.E. Kushlinskii, M.L. Filipenko // Asian Pac J Cancer Prev. -2015.- V.16(17).- P.7935-41.	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=161002&p_lang=2	ru_RU
dc.description.abstract	Asian Pacific Journal of Cancer Prevention	ru_RU
dc.description.abstract	Asian Pacific Journal of Cancer Prevention	ru_RU
dc.description.abstract	The aim of this study was to implement massive parallel sequencing (MPS) technology in clinical genetics testing. We developed and tested an amplicon-based method for resequencing the BRCA1 and BRCA2 genes on an Illumina MiSeq to identify disease-causing mutations in patients with hereditary breast or ovarian cancer (HBOC). The coding regions of BRCA1 and BRCA2 were resequenced in 96 HBOC patient DNA samples obtained from different sample types: peripheral blood leukocytes, whole blood drops dried on paper, and buccal wash epithelia. A total of 16 random DNA samples were characterized using standard Sanger sequencing and applied to optimize the variant calling process and evaluate the accuracy of the MPS-method. The best bioinformatics workflow included the filtration of variants using GATK with the following cut-offs: variant frequency >14%, coverage (>25x) and presence in both the forward and reverse reads. The MPS method had 100% sensitivity and 94.4% specificity.	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	Amplicon sequencing	ru_RU
dc.subject	massive parallel sequencing	ru_RU
dc.subject	diagnostics	ru_RU
dc.subject	BRCA	ru_RU
dc.subject	NGS	ru_RU
dc.title	Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes--a Single Center Experience	ru_RU
dc.type	Articles in international journals and collections	ru_RU