Genomic analysis of head and neck cancer cases from two high incidence regions

We investigated how somatic changes in HNSCC interact with environmental and host risk factors and whether they influence the risk of HNSCC occurrence and outcome. 180-paired samples diagnosed as HNSCC in two high incidence regions of Europe and South America underwent targeted sequencing (14 genes)...

Full description

Autores:
Perdomo Lara, Sandra Janneth
Anantharaman, Devasena
Foll, Matthieu
Durand, Geoffroy
Abedi-Ardekani, Behnoush
Reis Rosa, Luciana Albina
Holmila, Reetta
Le Calvez-Kelm, Florence
Tajara, Eloiza H.
Wünsch-Filho, Victor
Levi, José Eduardo
Vilensky, Marta
Polesel, Jerry
Holcatova, Ivana
Simonato, Lorenzo
Canova, Cristina
Lagiou, Pagona
Brennan, Paul
McKay, James D.
Tipo de recurso:
Fecha de publicación:
2018
Institución:
Universidad El Bosque
Repositorio:
Repositorio U. El Bosque
Idioma:
eng
OAI Identifier:
oai:repositorio.unbosque.edu.co:20.500.12495/1673
Acceso en línea:
http://hdl.handle.net/20.500.12495/1673
https://doi.org/10.1371/journal.pone.0191701
Palabra clave:
Síntomas sin explicación médica
Carcinoma de células escamosas
Neoplasias de cabeza y cuello
Rights
License
Attribution 4.0 International
id UNBOSQUE2_9c4c5ef1a540b6c6d7e09d4457b6c41c
oai_identifier_str oai:repositorio.unbosque.edu.co:20.500.12495/1673
network_acronym_str UNBOSQUE2
network_name_str Repositorio U. El Bosque
repository_id_str
dc.title.spa.fl_str_mv Genomic analysis of head and neck cancer cases from two high incidence regions
title Genomic analysis of head and neck cancer cases from two high incidence regions
spellingShingle Genomic analysis of head and neck cancer cases from two high incidence regions
Síntomas sin explicación médica
Carcinoma de células escamosas
Neoplasias de cabeza y cuello
title_short Genomic analysis of head and neck cancer cases from two high incidence regions
title_full Genomic analysis of head and neck cancer cases from two high incidence regions
title_fullStr Genomic analysis of head and neck cancer cases from two high incidence regions
title_full_unstemmed Genomic analysis of head and neck cancer cases from two high incidence regions
title_sort Genomic analysis of head and neck cancer cases from two high incidence regions
dc.creator.fl_str_mv Perdomo Lara, Sandra Janneth
Anantharaman, Devasena
Foll, Matthieu
Durand, Geoffroy
Abedi-Ardekani, Behnoush
Reis Rosa, Luciana Albina
Holmila, Reetta
Le Calvez-Kelm, Florence
Tajara, Eloiza H.
Wünsch-Filho, Victor
Levi, José Eduardo
Vilensky, Marta
Polesel, Jerry
Holcatova, Ivana
Simonato, Lorenzo
Canova, Cristina
Lagiou, Pagona
Brennan, Paul
McKay, James D.
dc.contributor.author.none.fl_str_mv Perdomo Lara, Sandra Janneth
Anantharaman, Devasena
Foll, Matthieu
Durand, Geoffroy
Abedi-Ardekani, Behnoush
Reis Rosa, Luciana Albina
Holmila, Reetta
Le Calvez-Kelm, Florence
Tajara, Eloiza H.
Wünsch-Filho, Victor
Levi, José Eduardo
Vilensky, Marta
Polesel, Jerry
Holcatova, Ivana
Simonato, Lorenzo
Canova, Cristina
Lagiou, Pagona
Brennan, Paul
McKay, James D.
dc.contributor.orcid.none.fl_str_mv Perdomo Lara, Sandra Janneth [0000-0002-4429-3760]
dc.subject.decs.spa.fl_str_mv Síntomas sin explicación médica
Carcinoma de células escamosas
Neoplasias de cabeza y cuello
topic Síntomas sin explicación médica
Carcinoma de células escamosas
Neoplasias de cabeza y cuello
description We investigated how somatic changes in HNSCC interact with environmental and host risk factors and whether they influence the risk of HNSCC occurrence and outcome. 180-paired samples diagnosed as HNSCC in two high incidence regions of Europe and South America underwent targeted sequencing (14 genes) and evaluation of copy number alterations (SCNAs). TP53, PIK3CA, NOTCH1, TP63 and CDKN2A were the most frequently mutated genes. Cases were characterized by a low copy number burden with recurrent focal amplification in 11q13.3 and deletion in 15q22. Cases with low SCNAs showed an improved overall survival. We found significant correlations with decreased overall survival between focal amplified regions 4p16, 10q22 and 22q11, and losses in 12p12, 15q14 and 15q22. The mutational landscape in our cases showed an association to both environmental exposures and clinical characteristics. We confirmed that somatic copy number alterations are an important predictor of HNSCC overall survival.
publishDate 2018
dc.date.issued.none.fl_str_mv 2018
dc.date.accessioned.none.fl_str_mv 2019-09-12T20:12:21Z
dc.date.available.none.fl_str_mv 2019-09-12T20:12:21Z
dc.type.spa.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.local.spa.fl_str_mv artículo
dc.identifier.issn.none.fl_str_mv 1932-6203
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/20.500.12495/1673
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1371/journal.pone.0191701
dc.identifier.instname.spa.fl_str_mv instname:Universidad El Bosque
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional Universidad El Bosque
dc.identifier.repourl.none.fl_str_mv repourl:https://repositorio.unbosque.edu.co
identifier_str_mv 1932-6203
instname:Universidad El Bosque
reponame:Repositorio Institucional Universidad El Bosque
repourl:https://repositorio.unbosque.edu.co
url http://hdl.handle.net/20.500.12495/1673
https://doi.org/10.1371/journal.pone.0191701
dc.language.iso.none.fl_str_mv eng
language eng
dc.relation.ispartofseries.spa.fl_str_mv Plos ONE, 1932-6203, Vol. 13, Nro. 1, 2018, p. 1-18
dc.relation.uri.none.fl_str_mv https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191701
dc.rights.*.fl_str_mv Attribution 4.0 International
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by/4.0/
dc.rights.local.spa.fl_str_mv Acceso abierto
dc.rights.accessrights.none.fl_str_mv http://purl.org/coar/access_right/c_abf406
dc.rights.creativecommons.none.fl_str_mv 2018
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Acceso abierto
http://purl.org/coar/access_right/c_abf406
2018
http://purl.org/coar/access_right/c_abf2
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Public Library of Science
dc.publisher.journal.spa.fl_str_mv Plos ONE
institution Universidad El Bosque
bitstream.url.fl_str_mv https://repositorio.unbosque.edu.co/bitstreams/4b6db1f9-8d69-4bb9-b0aa-7044eb2fd77d/download
https://repositorio.unbosque.edu.co/bitstreams/8bd87d5c-a5f9-4b0b-872e-2156427d76b1/download
https://repositorio.unbosque.edu.co/bitstreams/3fa27e29-c4b3-45a5-9d98-d6ecc9587fe8/download
https://repositorio.unbosque.edu.co/bitstreams/16f6a168-afde-4fd1-a2c6-90c1b4b4074b/download
https://repositorio.unbosque.edu.co/bitstreams/ddf4cb78-edb3-4d35-904b-9f75b8d0e820/download
bitstream.checksum.fl_str_mv a124cb6377d884dec157b6e9cc770862
0175ea4a2d4caec4bbcc37e300941108
8a4605be74aa9ea9d79846c1fba20a33
c92d023366f099ab1d0dd23c35bd5fe4
ae8d666d40f8d3702db49dcf25da2f6a
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
MD5
MD5
repository.name.fl_str_mv Repositorio Institucional Universidad El Bosque
repository.mail.fl_str_mv bibliotecas@biteca.com
_version_ 1814100743780564992
spelling Perdomo Lara, Sandra JannethAnantharaman, DevasenaFoll, MatthieuDurand, GeoffroyAbedi-Ardekani, BehnoushReis Rosa, Luciana AlbinaHolmila, ReettaLe Calvez-Kelm, FlorenceTajara, Eloiza H.Wünsch-Filho, VictorLevi, José EduardoVilensky, MartaPolesel, JerryHolcatova, IvanaSimonato, LorenzoCanova, CristinaLagiou, PagonaBrennan, PaulMcKay, James D.Perdomo Lara, Sandra Janneth [0000-0002-4429-3760]2019-09-12T20:12:21Z2019-09-12T20:12:21Z20181932-6203http://hdl.handle.net/20.500.12495/1673https://doi.org/10.1371/journal.pone.0191701instname:Universidad El Bosquereponame:Repositorio Institucional Universidad El Bosquerepourl:https://repositorio.unbosque.edu.coapplication/pdfengPublic Library of SciencePlos ONEPlos ONE, 1932-6203, Vol. 13, Nro. 1, 2018, p. 1-18https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191701Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Acceso abiertohttp://purl.org/coar/access_right/c_abf4062018http://purl.org/coar/access_right/c_abf2Genomic analysis of head and neck cancer cases from two high incidence regionsarticleartículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Síntomas sin explicación médicaCarcinoma de células escamosasNeoplasias de cabeza y cuelloWe investigated how somatic changes in HNSCC interact with environmental and host risk factors and whether they influence the risk of HNSCC occurrence and outcome. 180-paired samples diagnosed as HNSCC in two high incidence regions of Europe and South America underwent targeted sequencing (14 genes) and evaluation of copy number alterations (SCNAs). TP53, PIK3CA, NOTCH1, TP63 and CDKN2A were the most frequently mutated genes. Cases were characterized by a low copy number burden with recurrent focal amplification in 11q13.3 and deletion in 15q22. Cases with low SCNAs showed an improved overall survival. We found significant correlations with decreased overall survival between focal amplified regions 4p16, 10q22 and 22q11, and losses in 12p12, 15q14 and 15q22. The mutational landscape in our cases showed an association to both environmental exposures and clinical characteristics. We confirmed that somatic copy number alterations are an important predictor of HNSCC overall survival.ORIGINALPerdomo S., Anantharaman D., Foll M., Abedi-Ardekani B., Durand G., Reis Rosa L.A._2018.pdfPerdomo S., Anantharaman D., Foll M., Abedi-Ardekani B., Durand G., Reis Rosa L.A._2018.pdfapplication/pdf5868906https://repositorio.unbosque.edu.co/bitstreams/4b6db1f9-8d69-4bb9-b0aa-7044eb2fd77d/downloada124cb6377d884dec157b6e9cc770862MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8908https://repositorio.unbosque.edu.co/bitstreams/8bd87d5c-a5f9-4b0b-872e-2156427d76b1/download0175ea4a2d4caec4bbcc37e300941108MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://repositorio.unbosque.edu.co/bitstreams/3fa27e29-c4b3-45a5-9d98-d6ecc9587fe8/download8a4605be74aa9ea9d79846c1fba20a33MD53THUMBNAILPerdomo S., Anantharaman D., Foll M., Abedi-Ardekani B., Durand G., Reis Rosa L.A._2018.pdf.jpgPerdomo S., Anantharaman D., Foll M., Abedi-Ardekani B., Durand G., Reis Rosa L.A._2018.pdf.jpgIM Thumbnailimage/jpeg13207https://repositorio.unbosque.edu.co/bitstreams/16f6a168-afde-4fd1-a2c6-90c1b4b4074b/downloadc92d023366f099ab1d0dd23c35bd5fe4MD54TEXTPerdomo S., Anantharaman D., Foll M., Abedi-Ardekani B., Durand G., Reis Rosa L.A._2018.pdf.txtPerdomo S., Anantharaman D., Foll M., Abedi-Ardekani B., Durand G., Reis Rosa L.A._2018.pdf.txtExtracted texttext/plain66375https://repositorio.unbosque.edu.co/bitstreams/ddf4cb78-edb3-4d35-904b-9f75b8d0e820/downloadae8d666d40f8d3702db49dcf25da2f6aMD5520.500.12495/1673oai:repositorio.unbosque.edu.co:20.500.12495/16732024-02-07 02:30:40.016http://creativecommons.org/licenses/by/4.0/Attribution 4.0 Internationalopen.accesshttps://repositorio.unbosque.edu.coRepositorio Institucional Universidad El Bosquebibliotecas@biteca.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

Publicaciones similares