Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.
Dennis Cerrato-IzaguirreYolanda Irasema ChirinoDiddier PradaEricka Marel Quezada-MaldonadoLuis Alonso Herrera-MontalvoAngélica Hernández-GuerreroJuan Octavio Alonso-LarragaRoberto Herrera-GoepfertLuis F Oñate-OcañaDavid Cantú-de-LeónAbelardo Meneses-GarcíaPatricia Basurto-LozadaCarla Daniela Robles-EspinozaJavier CamachoClaudia María García-CuellarYesennia Sánchez-PérezPublished in: International journal of molecular sciences (2022)
The Hispanic population, compared with other ethnic groups, presents a more aggressive gastric cancer phenotype with higher frequency of diffuse-type gastric adenocarcinoma (GA); this could be related to the mutational landscape of GA in these patients. Using whole-exome sequencing, we sought to present the mutational landscape of GA from 50 Mexican patients who were treated at The Instituto Nacional de Cancerología from 2019 to 2020. We performed a comprehensive statistical analysis to explore the relationship of the genomic variants and clinical data such as tumor histology and presence of signet-ring cell, H. pylori , and EBV. We describe a potentially different mutational landscape between diffuse and intestinal GA in Mexican patients. Patients with intestinal-type GA tended to present a higher frequency of NOTCH1 mutations, copy number gains in cytobands 13.14, 10q23.33, and 12q25.1, and copy number losses in cytobands 7p12, 14q24.2, and 11q13.1; whereas patients with diffuse-type GA tended to present a high frequency of CDH1 mutations and CNV gains in cytobands 20q13.33 and 22q11.21. This is the first description of a mutational landscape of GA in Mexican patients to better understand tumorigenesis in Hispanic patients and lay the groundwork for discovering potential biomarkers and therapeutic targets.
Keyphrases
- copy number
- end stage renal disease
- pet ct
- ejection fraction
- newly diagnosed
- chronic kidney disease
- high frequency
- mitochondrial dna
- prognostic factors
- peritoneal dialysis
- single cell
- squamous cell carcinoma
- stem cells
- patient reported outcomes
- low grade
- radiation therapy
- dna methylation
- high grade
- diffuse large b cell lymphoma
- machine learning
- artificial intelligence
- cell therapy