p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics

Antecedentes: El exón 2 de KRAS p. La mutación G12C en pacientes con adenocarcinoma de pulmón ha ido aumentando en relevancia debido al desarrollo y la eficacia de nuevos medicamentos de tratamiento. Estudios en diferentes poblaciones indican que la variabilidad regional entre etnias y ascendencias...

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Autores:
Ruíz-Patiño, Alejandro
Rodríguez, July
Ávila, Jenny
Archila, Pilar
Carranza, Hernán
Vargas, Carlos Alberto
Otero, Jorge Miguel
Arrieta, Oscar
Zatarain-Barrón, Lucia
Sotelo, Carolina
Ordoñez, Camila
Tipo de recurso:
Article of journal
Fecha de publicación:
2022
Institución:
Universidad El Bosque
Repositorio:
Repositorio U. El Bosque
Idioma:
eng
OAI Identifier:
oai:repositorio.unbosque.edu.co:20.500.12495/6801
Acceso en línea:
http://hdl.handle.net/20.500.12495/6801
https://doi.org/10.1016/j.tranon.2021.101276
Palabra clave:
Epidemiología molecular
Cáncer de pulmón de células no pequeñas
Marcadores de población
KRAS
Molecular epidemiology
Non small cell lung cancer
Population markers
Rights
openAccess
License
Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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dc.title.spa.fl_str_mv p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
dc.title.translated.spa.fl_str_mv p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
title p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
spellingShingle p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
Epidemiología molecular
Cáncer de pulmón de células no pequeñas
Marcadores de población
KRAS
Molecular epidemiology
Non small cell lung cancer
Population markers
title_short p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
title_full p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
title_fullStr p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
title_full_unstemmed p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
title_sort p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
dc.creator.fl_str_mv Ruíz-Patiño, Alejandro
Rodríguez, July
Ávila, Jenny
Archila, Pilar
Carranza, Hernán
Vargas, Carlos Alberto
Otero, Jorge Miguel
Arrieta, Oscar
Zatarain-Barrón, Lucia
Sotelo, Carolina
Ordoñez, Camila
dc.contributor.author.none.fl_str_mv Ruíz-Patiño, Alejandro
Rodríguez, July
Ávila, Jenny
Archila, Pilar
Carranza, Hernán
Vargas, Carlos Alberto
Otero, Jorge Miguel
Arrieta, Oscar
Zatarain-Barrón, Lucia
Sotelo, Carolina
Ordoñez, Camila
dc.contributor.orcid.none.fl_str_mv Cardona, Andrés Felipe [https://orcid.org/0000-0003-3525-4126]
dc.subject.spa.fl_str_mv Epidemiología molecular
Cáncer de pulmón de células no pequeñas
Marcadores de población
topic Epidemiología molecular
Cáncer de pulmón de células no pequeñas
Marcadores de población
KRAS
Molecular epidemiology
Non small cell lung cancer
Population markers
dc.subject.keywords.spa.fl_str_mv KRAS
Molecular epidemiology
Non small cell lung cancer
Population markers
description Antecedentes: El exón 2 de KRAS p. La mutación G12C en pacientes con adenocarcinoma de pulmón ha ido aumentando en relevancia debido al desarrollo y la eficacia de nuevos medicamentos de tratamiento. Estudios en diferentes poblaciones indican que la variabilidad regional entre etnias y ascendencias podría desempeñar un papel fundamental en el desarrollo de esta alteración molecular dentro del cáncer de pulmón. Results: Included were 979 patients with a national mean frequency for the KRAS exon 2 p.G12C mutation of 7.97% (95%CI 6.27-9.66%). Variation between regions was also identified with Antioquia reaching a positivity value of 12.7% (95%CI 9.1-16.3%) in contrast to other regions such as Bogota DC (Capital region) with 5.4% (2.7-8.2%) and Bolivar with 2.4% (95%CI 0-7.2%) (p-value = 0.00262). Furthermore, Short tandem repeat population substructures were found for eight markers that strongly yielded association with KRAS exon 2 p.G12C frequency reaching an adjusted R2 of 0.945 and a p-value of < 0.0001. Conclusions: Widespread identification of KRAS exon 2 p.G12C mutations, especially in cases where NGS is not easily achieved is feasible at a population based level that can characterize regional and national patterns of mutation status. Furthermore, this type of mutation prevalence follows a population substructure pattern that can be easily determined by population and ancestral markers such as STR.
publishDate 2022
dc.date.accessioned.none.fl_str_mv 2022-02-09T22:07:28Z
dc.date.available.none.fl_str_mv 2022-02-09T22:07:28Z
dc.date.issued.none.fl_str_mv 2022-01
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.local.none.fl_str_mv Artículo de revista
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dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/20.500.12495/6801
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1016/j.tranon.2021.101276
dc.identifier.instname.spa.fl_str_mv instname:Universidad El Bosque
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional Universidad El Bosque
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identifier_str_mv 1936-5233
instname:Universidad El Bosque
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repourl:https://repositorio.unbosque.edu.co
url http://hdl.handle.net/20.500.12495/6801
https://doi.org/10.1016/j.tranon.2021.101276
dc.language.iso.none.fl_str_mv eng
language eng
dc.relation.ispartofseries.spa.fl_str_mv Translational Oncology, 1936-5233, Vol 15, Num 1, 2022
dc.relation.uri.none.fl_str_mv https://linkinghub.elsevier.com/retrieve/pii/S1936-5233(21)00267-9
dc.rights.*.fl_str_mv Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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dc.rights.local.spa.fl_str_mv Acceso abierto
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eu_rights_str_mv openAccess
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Neoplasia Press, Inc.
dc.publisher.journal.spa.fl_str_mv Translational Oncology
institution Universidad El Bosque
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spelling Ruíz-Patiño, AlejandroRodríguez, JulyÁvila, JennyArchila, PilarCarranza, HernánVargas, Carlos AlbertoOtero, Jorge MiguelArrieta, OscarZatarain-Barrón, LuciaSotelo, CarolinaOrdoñez, CamilaCardona, Andrés Felipe [https://orcid.org/0000-0003-3525-4126]2022-02-09T22:07:28Z2022-02-09T22:07:28Z2022-011936-5233http://hdl.handle.net/20.500.12495/6801https://doi.org/10.1016/j.tranon.2021.101276instname:Universidad El Bosquereponame:Repositorio Institucional Universidad El Bosquerepourl:https://repositorio.unbosque.edu.coAntecedentes: El exón 2 de KRAS p. La mutación G12C en pacientes con adenocarcinoma de pulmón ha ido aumentando en relevancia debido al desarrollo y la eficacia de nuevos medicamentos de tratamiento. Estudios en diferentes poblaciones indican que la variabilidad regional entre etnias y ascendencias podría desempeñar un papel fundamental en el desarrollo de esta alteración molecular dentro del cáncer de pulmón. Results: Included were 979 patients with a national mean frequency for the KRAS exon 2 p.G12C mutation of 7.97% (95%CI 6.27-9.66%). Variation between regions was also identified with Antioquia reaching a positivity value of 12.7% (95%CI 9.1-16.3%) in contrast to other regions such as Bogota DC (Capital region) with 5.4% (2.7-8.2%) and Bolivar with 2.4% (95%CI 0-7.2%) (p-value = 0.00262). Furthermore, Short tandem repeat population substructures were found for eight markers that strongly yielded association with KRAS exon 2 p.G12C frequency reaching an adjusted R2 of 0.945 and a p-value of < 0.0001. Conclusions: Widespread identification of KRAS exon 2 p.G12C mutations, especially in cases where NGS is not easily achieved is feasible at a population based level that can characterize regional and national patterns of mutation status. Furthermore, this type of mutation prevalence follows a population substructure pattern that can be easily determined by population and ancestral markers such as STR.Background: The KRAS exon 2 p. G12C mutation in patients with lung adenocarcinoma has been increasing in relevance due to the development and effectiveness of new treatment medications. Studies around different populations indicate that regional variability between ethnic groups and ancestries could play an essential role in developing this molecular alteration within lung cancer. Methods: In a prospective and retrospective cohort study on samples from lung adenocarcinoma from 1000 patients from different administrative regions in Colombia were tested for the KRAS p.G12C mutation. An analysis of STR populations markers was conducted to identify substructure contributions to mutation prevalence. Results: Included were 979 patients with a national mean frequency for the KRAS exon 2 p.G12C mutation of 7.97% (95%CI 6.27-9.66%). Variation between regions was also identified with Antioquia reaching a positivity value of 12.7% (95%CI 9.1-16.3%) in contrast to other regions such as Bogota DC (Capital region) with 5.4% (2.7-8.2%) and Bolivar with 2.4% (95%CI 0-7.2%) (p-value = 0.00262). Furthermore, Short tandem repeat population substructures were found for eight markers that strongly yielded association with KRAS exon 2 p.G12C frequency reaching an adjusted R2 of 0.945 and a p-value of < 0.0001. Conclusions: Widespread identification of KRAS exon 2 p.G12C mutations, especially in cases where NGS is not easily achieved is feasible at a population based level that can characterize regional and national patterns of mutation status. Furthermore, this type of mutation prevalence follows a population substructure pattern that can be easily determined by population and ancestral markers such as STR.application/pdfengNeoplasia Press, Inc.Translational OncologyTranslational Oncology, 1936-5233, Vol 15, Num 1, 2022https://linkinghub.elsevier.com/retrieve/pii/S1936-5233(21)00267-9Attribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Acceso abiertohttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessAcceso abiertoEpidemiología molecularCáncer de pulmón de células no pequeñasMarcadores de poblaciónKRASMolecular epidemiologyNon small cell lung cancerPopulation markersp.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanicsp.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among HispanicsArtículo de revistainfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articlehttp://purl.org/coar/version/c_970fb48d4fbd8a85ORIGINALp.G12C KRAS mutation prevalence in non-small cell lung cancer Contribution from interregional variability and population substructures among Hispanics.pdfp.G12C KRAS mutation prevalence in non-small cell lung cancer Contribution from interregional variability and population substructures among Hispanics.pdfp.G12C KRAS mutation prevalence in non-small cell lung cancer Contribution from interregional variability and population substructures among Hispanicsapplication/pdf1579206https://repositorio.unbosque.edu.co/bitstreams/a5a2f27a-3abf-48f3-af9a-d227e90f53e3/downloadb2385d3f129e9ba40af40fa97566b995MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; 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