Diagnostics of hereditary cancer syndromes by ngs. A database creation experience

Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms. Improving the diagnosis of these diseases will make it possible to detect tumors at the early stages and take t...

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Autores principales:	Ivan S. Abramov, Tatyana S. Lisitsa, Anna M. Stroganova, Oxana O. Ryabaya, Anastasiya M. Danishevich, Anastasia O. Khakhina, Anastasiya I. Zakamornaya, Alina D. Matsvay, German A. Shipulin
Formato:	article
Lenguaje:	RU
Publicado:	Eco-vector 2021
Materias:	neoplastic syndromes hereditary high-throughput nucleotide sequencing databases genetic Medicine R
Acceso en línea:	https://doaj.org/article/e83809ec410d427c912b8af02e00473f
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spelling	oai:doaj.org-article:e83809ec410d427c912b8af02e00473f2021-11-30T18:15:22ZDiagnostics of hereditary cancer syndromes by ngs. A database creation experience2220-30952618-862710.17816/clinpract76383https://doaj.org/article/e83809ec410d427c912b8af02e00473f2021-10-01T00:00:00Zhttps://journals.eco-vector.com/clinpractice/article/viewFile/76383/pdfhttps://doaj.org/toc/2220-3095https://doaj.org/toc/2618-8627Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms. Improving the diagnosis of these diseases will make it possible to detect tumors at the early stages and take timely preventive and therapeutic measures. Aims: Creation of a database and development of a software for the NGS data analysis for the prevention and early diagnosis of hereditary forms of oncological diseases. Methods: The present study used 636 DNA samples obtained from cancer patients with a high hereditary risk or a burdened family history. DNA was isolated from blood lymphocytes. DNA libraries were prepared with a KAPA Target Enrichment Panel (Roche). The panel included probes for targeted enrichment of the coding region of 44 genes. NGS was performed on the MiSeq platform (Illumina). Results: We identified 65 pathogenic/ probably pathogenic nucleotide sequence variants in 96 patients in the ATM, BLM, BRCA1, BRCA2, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, PALB2, TP53 genes. We also identified 2858 nucleotide sequence variants of unknown clinical significance. Conclusions: We have created a local database that contains both genetic variants and clinical and anamnestic data. The database contains 4763 nucleotide sequence variants at the moment, among which 2522 are unique variants identified in a single patient.Ivan S. AbramovTatyana S. LisitsaAnna M. StroganovaOxana O. RyabayaAnastasiya M. DanishevichAnastasia O. KhakhinaAnastasiya I. ZakamornayaAlina D. MatsvayGerman A. ShipulinEco-vectorarticleneoplastic syndromeshereditaryhigh-throughput nucleotide sequencingdatabasesgeneticMedicineRRUКлиническая практика , Vol 12, Iss 3, Pp 36-42 (2021)
institution	DOAJ
collection	DOAJ
language	RU
topic	neoplastic syndromes hereditary high-throughput nucleotide sequencing databases genetic Medicine R
spellingShingle	neoplastic syndromes hereditary high-throughput nucleotide sequencing databases genetic Medicine R Ivan S. Abramov Tatyana S. Lisitsa Anna M. Stroganova Oxana O. Ryabaya Anastasiya M. Danishevich Anastasia O. Khakhina Anastasiya I. Zakamornaya Alina D. Matsvay German A. Shipulin Diagnostics of hereditary cancer syndromes by ngs. A database creation experience
description	Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms. Improving the diagnosis of these diseases will make it possible to detect tumors at the early stages and take timely preventive and therapeutic measures. Aims: Creation of a database and development of a software for the NGS data analysis for the prevention and early diagnosis of hereditary forms of oncological diseases. Methods: The present study used 636 DNA samples obtained from cancer patients with a high hereditary risk or a burdened family history. DNA was isolated from blood lymphocytes. DNA libraries were prepared with a KAPA Target Enrichment Panel (Roche). The panel included probes for targeted enrichment of the coding region of 44 genes. NGS was performed on the MiSeq platform (Illumina). Results: We identified 65 pathogenic/ probably pathogenic nucleotide sequence variants in 96 patients in the ATM, BLM, BRCA1, BRCA2, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, PALB2, TP53 genes. We also identified 2858 nucleotide sequence variants of unknown clinical significance. Conclusions: We have created a local database that contains both genetic variants and clinical and anamnestic data. The database contains 4763 nucleotide sequence variants at the moment, among which 2522 are unique variants identified in a single patient.
format	article
author	Ivan S. Abramov Tatyana S. Lisitsa Anna M. Stroganova Oxana O. Ryabaya Anastasiya M. Danishevich Anastasia O. Khakhina Anastasiya I. Zakamornaya Alina D. Matsvay German A. Shipulin
author_facet	Ivan S. Abramov Tatyana S. Lisitsa Anna M. Stroganova Oxana O. Ryabaya Anastasiya M. Danishevich Anastasia O. Khakhina Anastasiya I. Zakamornaya Alina D. Matsvay German A. Shipulin
author_sort	Ivan S. Abramov
title	Diagnostics of hereditary cancer syndromes by ngs. A database creation experience
title_short	Diagnostics of hereditary cancer syndromes by ngs. A database creation experience
title_full	Diagnostics of hereditary cancer syndromes by ngs. A database creation experience
title_fullStr	Diagnostics of hereditary cancer syndromes by ngs. A database creation experience
title_full_unstemmed	Diagnostics of hereditary cancer syndromes by ngs. A database creation experience
title_sort	diagnostics of hereditary cancer syndromes by ngs. a database creation experience
publisher	Eco-vector
publishDate	2021
url	https://doaj.org/article/e83809ec410d427c912b8af02e00473f
work_keys_str_mv	AT ivansabramov diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT tatyanaslisitsa diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT annamstroganova diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT oxanaoryabaya diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT anastasiyamdanishevich diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT anastasiaokhakhina diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT anastasiyaizakamornaya diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT alinadmatsvay diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience AT germanashipulin diagnosticsofhereditarycancersyndromesbyngsadatabasecreationexperience
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Diagnostics of hereditary cancer syndromes by ngs. A database creation experience

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