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 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.

• 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