Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing

Detection of driver gene mutations in stool DNA represents a promising noninvasive approach for screening colorectal cancer (CRC). Amplicon-based next-generation sequencing (NGS) is a good option to study mutations in many cancer genes simultaneously and from a low amount of DNA. Our aim was to asse...

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Autores: Armengol, Gemma|||0000-0003-2345-1106, Sarhadi, Virinder K., Ghanbari, Reza, Doghaei-Moghaddam, Masoud, Ansari, Reza, Sotoudeh, Masoud, Puolakkainen, Pauli, Malekzadeh, Reza, Knuutila, Sakari
Tipo de recurso: artículo
Fecha de publicación:2016
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:320844
Acceso en línea:https://ddd.uab.cat/record/320844
https://dx.doi.org/urn:doi:10.1016/j.jmoldx.2016.01.008
Access Level:acceso abierto
Palabra clave:SDG 3 - Good Health and Well-being
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spelling Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation SequencingArmengol, Gemma|||0000-0003-2345-1106Sarhadi, Virinder K.Ghanbari, RezaDoghaei-Moghaddam, MasoudAnsari, RezaSotoudeh, MasoudPuolakkainen, PauliMalekzadeh, RezaKnuutila, SakariSDG 3 - Good Health and Well-beingDetection of driver gene mutations in stool DNA represents a promising noninvasive approach for screening colorectal cancer (CRC). Amplicon-based next-generation sequencing (NGS) is a good option to study mutations in many cancer genes simultaneously and from a low amount of DNA. Our aim was to assess the feasibility of identifying mutations in 22 cancer driver genes with Ion Torrent technology in stool DNA from a series of 65 CRC patients. The assay was successful in 80% of stool DNA samples. NGS results showed 83 mutations in cancer driver genes, 29 hotspot and 54 novel mutations. One to five genes were mutated in 75% of cases. TP53, KRAS, FBXW7, and SMAD4 were the top mutated genes, consistent with previous studies. Of samples with mutations, 54% presented concomitant mutations in different genes. Phosphatidylinositol 3-kinase/mitogen-activated protein kinase pathway genes were mutated in 70% of samples, with 58% having alterations in KRAS, NRAS, or BRAF. Because mutations in these genes can compromise the efficacy of epidermal growth factor receptor blockade in CRC patients, identifying mutations that confer resistance to some targeted treatments may be useful to guide therapeutic decisions. In conclusion, the data presented herein show that NGS procedures on stool DNA represent a promising tool to detect genetic mutations that could be used in the future for diagnosis, monitoring, or treating CRC. 22016-01-0120162016-01-01Articlehttp://purl.org/coar/resource_type/c_6501AMhttp://purl.org/coar/version/c_ab4af688f83e57aainfo:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/320844https://dx.doi.org/urn:doi:10.1016/j.jmoldx.2016.01.008reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3208442026-06-06T12:50:31Z
dc.title.none.fl_str_mv Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
title Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
spellingShingle Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
Armengol, Gemma|||0000-0003-2345-1106
SDG 3 - Good Health and Well-being
title_short Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
title_full Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
title_fullStr Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
title_full_unstemmed Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
title_sort Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
dc.creator.none.fl_str_mv Armengol, Gemma|||0000-0003-2345-1106
Sarhadi, Virinder K.
Ghanbari, Reza
Doghaei-Moghaddam, Masoud
Ansari, Reza
Sotoudeh, Masoud
Puolakkainen, Pauli
Malekzadeh, Reza
Knuutila, Sakari
author Armengol, Gemma|||0000-0003-2345-1106
author_facet Armengol, Gemma|||0000-0003-2345-1106
Sarhadi, Virinder K.
Ghanbari, Reza
Doghaei-Moghaddam, Masoud
Ansari, Reza
Sotoudeh, Masoud
Puolakkainen, Pauli
Malekzadeh, Reza
Knuutila, Sakari
author_role author
author2 Sarhadi, Virinder K.
Ghanbari, Reza
Doghaei-Moghaddam, Masoud
Ansari, Reza
Sotoudeh, Masoud
Puolakkainen, Pauli
Malekzadeh, Reza
Knuutila, Sakari
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv SDG 3 - Good Health and Well-being
topic SDG 3 - Good Health and Well-being
description Detection of driver gene mutations in stool DNA represents a promising noninvasive approach for screening colorectal cancer (CRC). Amplicon-based next-generation sequencing (NGS) is a good option to study mutations in many cancer genes simultaneously and from a low amount of DNA. Our aim was to assess the feasibility of identifying mutations in 22 cancer driver genes with Ion Torrent technology in stool DNA from a series of 65 CRC patients. The assay was successful in 80% of stool DNA samples. NGS results showed 83 mutations in cancer driver genes, 29 hotspot and 54 novel mutations. One to five genes were mutated in 75% of cases. TP53, KRAS, FBXW7, and SMAD4 were the top mutated genes, consistent with previous studies. Of samples with mutations, 54% presented concomitant mutations in different genes. Phosphatidylinositol 3-kinase/mitogen-activated protein kinase pathway genes were mutated in 70% of samples, with 58% having alterations in KRAS, NRAS, or BRAF. Because mutations in these genes can compromise the efficacy of epidermal growth factor receptor blockade in CRC patients, identifying mutations that confer resistance to some targeted treatments may be useful to guide therapeutic decisions. In conclusion, the data presented herein show that NGS procedures on stool DNA represent a promising tool to detect genetic mutations that could be used in the future for diagnosis, monitoring, or treating CRC.
publishDate 2016
dc.date.none.fl_str_mv 2
2016-01-01
2016
2016-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
AM
http://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/320844
https://dx.doi.org/urn:doi:10.1016/j.jmoldx.2016.01.008
url https://ddd.uab.cat/record/320844
https://dx.doi.org/urn:doi:10.1016/j.jmoldx.2016.01.008
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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