Dataset Information

Prevalence of the BRAF p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations.

ABSTRACT: This study aimed to investigate the frequency of the somatic BRAF p.V600E in patients with colorectal cancer (CRC) in Mexico and compare it with those estimated for Latin American and Caribbean populations. One hundred and one patients with CRC with AJCC stages ranging I-IV from Western Mexico were included, out of which 55% were male and 61% had AJCC stage III-IV, with a mean age of 60 years. PCR-Sanger sequencing was used to identify the BRAF p.V600E variant. In addition, a systematic literature search in PubMed/Medline database and Google of the 42 countries in Latin America and the Caribbean led to the collection of information on the BRAF p.V600E variant frequency of 17 population reports. To compare the BRAF variant prevalence among populations, a statistical analysis was performed using GraphPad Prism V.6.0. We found that 4% of patients with CRC were heterozygous for the p.V600E variant. The ?2 test showed no significant difference (p>0.05) in p.V600E detection when comparing with other Latin American and Caribbean CRC populations, except for Chilean patients (p=0.02). Our observational study provides the first evidence on the frequency of BRAF p.V600E in patients with CRC from Western Mexico, which is 4%, but increases to 7.8% for all of Latin America and the Caribbean. The patient mean age and genetic descent on the observed frequencies of the variant in populations could influence the frequency differences.

SUBMITTER: Hernandez-Sandoval JA

PROVIDER: S-EPMC7306871 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Prevalence of the <i>BRAF</i> p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations.

Hernández-Sandoval Jesús Arturo JA Gutiérrez-Angulo Melva M Magaña-Torres María Teresa MT Alvizo-Rodríguez Carlos Rogelio CR Ramírez-Plascencia Helen Haydee Fernanda HHF Flores-López Beatriz Armida BA Valenzuela-Pérez Jesús Alonso JA Peregrina-Sandoval Jorge J Moreno-Ortiz José Miguel JM Domínguez-Valentín Mev M Ayala-Madrigal María de la Luz ML

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 20200316 5

This study aimed to investigate the frequency of the somatic <i>BRAF</i> p.V600E in patients with colorectal cancer (CRC) in Mexico and compare it with those estimated for Latin American and Caribbean populations. One hundred and one patients with CRC with AJCC stages ranging I-IV from Western Mexico were included, out of which 55% were male and 61% had AJCC stage III-IV, with a mean age of 60 years. PCR-Sanger sequencing was used to identify the BRAF p.V600E variant. In addition, a systematic l ...[more]

PMID: 32184228

Similar Datasets

Project description:BackgroundAlthough G6PDd individuals are generally asymptomatic throughout their life, the clinical burden of this genetic condition includes a range of haematological conditions, including acute haemolytic anaemia (AHA), neonatal jaundice (NNJ) and chronic non-sphaerocytic anaemia (CNSA). In Latin America (LA), the huge knowledge gap regarding G6PDd is related to the scarce understanding of the burden of clinical manifestation underlying G6PDd carriage. The aim of this work was to study the clinical significance of G6PDd in LA and the Caribbean region through a systematic review.MethodsA systematic search of the published literature was undertaken in August 2013. Bibliographies of manuscripts were also searched and additional references were identified. Only original research was included. All study designs were included, as long as any clinical information was present. Studies were eligible for inclusion if they reported clinical information from populations living in LA or Caribbean countries or about migrants from these countries living in countries outside this continent.ResultsThe Medline search generated 487 papers, and the LILACS search identified 140 papers. After applying the inclusion criteria, 100 original papers with any clinical information on G6PDd in LA were retrieved. Additionally, 16 articles were included after reading the references from these papers. These 116 articles reported data from 18 LA and Caribbean countries. The major clinical manifestations reported from LA countries were those related to AHA, namely drug-induced haemolysis. Most of the published works regarding drug-induced haemolysis in LA referred to haemolytic crises in P. vivax malaria patients during the course of the treatment with primaquine (PQ). Favism, infection-induced haemolysis, NNJ and CNSA appear to play only a minor public health role in this continent.ConclusionHaemolysis in patients using PQ seems to be the major clinical manifestation of G6PDd in LA and contributes to the morbidity of P. vivax infection in this continent, although the low number of reported cases, which could be linked to under-reporting of complications. These results support the need for better strategies to diagnose and manage G6PDd in malaria field conditions. Additionally, Malaria Control Programmes in LA should not overlook this condition in their national guidelines.

Project description:Genomics can reveal essential features about the demographic evolution of a population that may not be apparent from historical elements. In recent years, there has been a significant increase in the number of studies applying genomic epidemiological approaches to understand the genetic structure and diversity of human populations in the context of demographic history and for implementing precision medicine. These efforts have traditionally been applied predominantly to populations of European origin. More recently, initiatives in the United States and Africa are including more diverse populations, establishing new horizons for research in human populations with African and/or Native ancestries. Still, even in the most recent projects, the under-representation of genomic data from Latin America and the Caribbean (LAC) is remarkable. In addition, because the region presents the most recent global miscegenation, genomics data from LAC may add relevant information to understand population admixture better. Admixture in LAC started during the colonial period, in the 15th century, with intense miscegenation between European settlers, mainly from Portugal and Spain, with local indigenous and sub-Saharan Africans brought through the slave trade. Since, there are descendants of formerly enslaved and Native American populations in the LAC territory; they are considered vulnerable populations because of their history and current living conditions. In this context, studying LAC Native American and African descendant populations is important for several reasons. First, studying human populations from different origins makes it possible to understand the diversity of the human genome better. Second, it also has an immediate application to these populations, such as empowering communities with the knowledge of their ancestral origins. Furthermore, because knowledge of the population genomic structure is an essential requirement for implementing genomic medicine and precision health practices, population genomics studies may ensure that these communities have access to genomic information for risk assessment, prevention, and the delivery of optimized treatment; thus, helping to reduce inequalities in the Western Hemisphere. Hoping to set the stage for future studies, we review different aspects related to genetic and genomic research in vulnerable populations from LAC countries.

Project description:INTRODUCTION:Dengue is an escalating public health concern in Latin American Countries with a dramatic increase of cases reported during the past decade. The objectives of this study were to identify and provide insights into current management and attitudes toward dengue and to understand attitudes to vaccination and current behaviors to prevent dengue in Mexico and Colombia. METHODS:This was a community-based, cross-sectional, descriptive study conducted in urban and rural areas in endemic and non-endemic regions. The interviews were conducted face-to-face using a structured questionnaire containing 58 questions. A quota sampling approach was used to obtain a nationally representative sample of the adult population. All data were weighted to correct for differences between the samples surveyed in each country relative to their general population. RESULTS:A total of 1978 participants completed the survey. Two percent and 10% of participants in Mexico and Colombia, respectively, had experienced dengue fever, with just under one-third of adults and almost two-thirds of their children hospitalized as a result of the illness. Awareness of dengue was similar in Colombia (76%) and Mexico (68%), with awareness higher in endemic regions than in non-endemic regions. Colombia had a higher proportion of participants (84%) who considered dengue to be a common disease in their country, compared with Mexico (56%). In Mexico and Colombia, 55% and 54% in endemic areas, and 28% and 46% in non-endemic areas believed that everyone was at risk of contracting dengue. In both countries, the most common action undertaken by participants to prevent dengue infection was removal of standing water. At least 70% of participants believe their government could do more to prevent dengue in their country. CONCLUSIONS:Dengue was identified as a severe and common disease in Mexico and Colombia. Most participants recognized the need to reduce the risk of dengue infection by removal of standing water. Awareness was similar in Colombia and Mexico.

Dataset Information

Prevalence of the BRAF p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations.

Publications

Prevalence of the <i>BRAF</i> p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets