Abstract

Introduction: The study of allelic and genotypic frequencies contributes to determining the distribution of genetic variants in different populations and their possible association with biomarkers. This knowledge could improve the decision-making process regarding the management of some diseases such as colorectal cancer (CRC), in which the detection of clinical biomarkers such as dental agenesis could be crucial in clinical practice. Objective: To evaluate the available scientific evidence on the prevalence of KRAS, PIK3CA, BRAF and AXIN2 mutations and their possible association with dental agenesis in people with CRC. Materials and methods: A systematic search was conducted in PubMed, EMBASE and Cochrane Library databases using the following search strategy: type of studies: observational studies reporting the prevalence of KRAS, PIK3CA, BRAF and AXIN2 mutations in people diagnosed with CRC and their possible association with dental agenesis; publication language: English and Spanish; publication period: 2010-2020; search terms: “Genes”, “RAS”, “Kras”, “PIK3CA”, “BRAF”, “AXIN2”, “Mutation”, “Polymorphism”, “Colorectal Neoplasms”, “Colorectal Cancer”, used in different combinations (“AND” and “OR”). Results: The initial search yielded 403 records, but only 30 studies met the eligibility criteria. Of these, 11, 5, 5 and 1 only reported the prevalence of PIK3CA, KRAS, BRAF and AXIN2 mutations, respectively; while 8 reported the prevalence of more than one of these mutations in patients with CRC. The prevalence of KRAS (p.Gly12Asp), PIK3CA (p.Glu545Lys), and BRAF (p.Val600Glu) mutations ranged from 20.5% to 54%, 3.5% to 20.2%, and 2.5% to 12.1%, respectively. There were no findings regarding the association between the occurrence of these mutations and dental agenesis. Conclusions: KRAS mutations were the most prevalent; however, there is no evidence on the association between dental agenesis and the occurrence of KRAS, PIK3CA and BRAF germline mutations in individuals with CRC.

Highlights

  • Publicación anticipadaEste artículo fue aprobado para publicación en el v71n1 de la Revista de la Facultad de Medicina teniendo en cuenta los conceptos de los pares evaluadores y los cambios realizados por los autores según estos conceptos

  • Colorectal cancer (CRC) is one of the leading causes of morbimortality. worldwide (1)

  • AXIN2 could act as a diagnostic biomarker for CRC associated to dental agenesis, so this gene variant and the presence of this oral developmental anomaly have been proposed as a predictive factor for this malignant disease (13)

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Summary

Publicación anticipada

Este artículo fue aprobado para publicación en el v71n1 de la Revista de la Facultad de Medicina teniendo en cuenta los conceptos de los pares evaluadores y los cambios realizados por los autores según estos conceptos. Se publica la versión preliminar del artículo para su consulta y citación provisional, pero debe aclararse que esta puede diferir del documento final, ya que no ha completado las etapas finales del proceso editorial (corrección de estilo, traducción y diagramación) y solo los títulos, datos de autores, palabras clave y resúmenes corresponden a la versión final del artículo. Descargarse y citarse según se indique a continuación, pero debe recordarse que el documento final (PDF, HTML y XML) puede ser diferente. Cómo citar: Sir-Mendoza F, Madera M, González-Martínez F.

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