p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics
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...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Elsevier
2022
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/dea50884219f4b58aada2eb1e72a93c5 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:dea50884219f4b58aada2eb1e72a93c5 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:dea50884219f4b58aada2eb1e72a93c52021-11-24T04:27:45Zp.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics1936-523310.1016/j.tranon.2021.101276https://doaj.org/article/dea50884219f4b58aada2eb1e72a93c52022-01-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1936523321002679https://doaj.org/toc/1936-5233Background: 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.Alejandro Ruiz-PatiñoJuly RodríguezAndrés F. CardonaJenny ÁvilaPilar ArchilaHernán CarranzaCarlos VargasJorge OteroOscar ArrietaLucia Zatarain-BarrónCarolina SoteloCamila OrdoñezJuan Esteban García-RobledoLeonardo RojasMaritza BermúdezTatiana GámezDiana MayorgaLuis CorralesClaudio MartínGonzalo RecondoLuis MasSuraj SamtaniLuisa RicaurteUmberto MalapelleAlessandro RussoFeliciano BarrónNicolas SantoyoChristian RolfoRafael RosellElsevierarticleNon small cell lung cancerMolecular epidemiologyKRASPopulation markersNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENTranslational Oncology, Vol 15, Iss 1, Pp 101276- (2022) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Non small cell lung cancer Molecular epidemiology KRAS Population markers Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
| spellingShingle |
Non small cell lung cancer Molecular epidemiology KRAS Population markers Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Alejandro Ruiz-Patiño July Rodríguez Andrés F. Cardona Jenny Ávila Pilar Archila Hernán Carranza Carlos Vargas Jorge Otero Oscar Arrieta Lucia Zatarain-Barrón Carolina Sotelo Camila Ordoñez Juan Esteban García-Robledo Leonardo Rojas Maritza Bermúdez Tatiana Gámez Diana Mayorga Luis Corrales Claudio Martín Gonzalo Recondo Luis Mas Suraj Samtani Luisa Ricaurte Umberto Malapelle Alessandro Russo Feliciano Barrón Nicolas Santoyo Christian Rolfo Rafael Rosell p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics |
| description |
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. |
| format |
article |
| author |
Alejandro Ruiz-Patiño July Rodríguez Andrés F. Cardona Jenny Ávila Pilar Archila Hernán Carranza Carlos Vargas Jorge Otero Oscar Arrieta Lucia Zatarain-Barrón Carolina Sotelo Camila Ordoñez Juan Esteban García-Robledo Leonardo Rojas Maritza Bermúdez Tatiana Gámez Diana Mayorga Luis Corrales Claudio Martín Gonzalo Recondo Luis Mas Suraj Samtani Luisa Ricaurte Umberto Malapelle Alessandro Russo Feliciano Barrón Nicolas Santoyo Christian Rolfo Rafael Rosell |
| author_facet |
Alejandro Ruiz-Patiño July Rodríguez Andrés F. Cardona Jenny Ávila Pilar Archila Hernán Carranza Carlos Vargas Jorge Otero Oscar Arrieta Lucia Zatarain-Barrón Carolina Sotelo Camila Ordoñez Juan Esteban García-Robledo Leonardo Rojas Maritza Bermúdez Tatiana Gámez Diana Mayorga Luis Corrales Claudio Martín Gonzalo Recondo Luis Mas Suraj Samtani Luisa Ricaurte Umberto Malapelle Alessandro Russo Feliciano Barrón Nicolas Santoyo Christian Rolfo Rafael Rosell |
| author_sort |
Alejandro Ruiz-Patiño |
| title |
p.G12C KRAS mutation prevalence in non-small cell lung cancer: Contribution from interregional variability and population substructures among Hispanics |
| 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 |
| publisher |
Elsevier |
| publishDate |
2022 |
| url |
https://doaj.org/article/dea50884219f4b58aada2eb1e72a93c5 |
| work_keys_str_mv |
AT alejandroruizpatino pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT julyrodriguez pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT andresfcardona pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT jennyavila pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT pilararchila pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT hernancarranza pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT carlosvargas pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT jorgeotero pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT oscararrieta pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT luciazatarainbarron pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT carolinasotelo pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT camilaordonez pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT juanestebangarciarobledo pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT leonardorojas pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT maritzabermudez pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT tatianagamez pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT dianamayorga pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT luiscorrales pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT claudiomartin pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT gonzalorecondo pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT luismas pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT surajsamtani pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT luisaricaurte pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT umbertomalapelle pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT alessandrorusso pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT felicianobarron pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT nicolassantoyo pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT christianrolfo pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics AT rafaelrosell pg12ckrasmutationprevalenceinnonsmallcelllungcancercontributionfrominterregionalvariabilityandpopulationsubstructuresamonghispanics |
| _version_ |
1718416006923157504 |