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Updated: Dec 17, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Pancreatic ductal adenocarcinomas from Mexican patients present a distinct genomic mutational pattern
Paulina Sanchez1, Magali Espinosa1, Vilma Maldonado2
1Functional Genomics Laboratory, Medical Research Subdirection, Instituto Nacional de Medicina Genomica, Periferico Sur 4809, Tlalpan, Arenal Tepepan, 14610, Mexico, Mexico.
Abstract:
Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers in humans, with less than 5% 5-year survival rate. PDAC is characterized by a small number of recurrent mutations, including KRAS, CDKN2A, TP53, and SMAD4 and a long "tail" of infrequent mutated genes. Most of the studies have been performed in US and European populations, so new studies are needed to describe the mutational landscape of these tumors in other cohorts. The present study analyzed the exome and transcriptome of four PDAC tumors from Mexican patients. We found a paucity of the previously described recurrent mutations, with mutations in only three genes (HERC2, CNTNAP2 and HMCN1) previously reported in PDAC with a frequency > 1%. In addition, we discovered several recurrent putative copy number aberrations in SKP2, BRAF, CSSF1R, FOXE1, JAK2 and MET genes and in genes previously reported as putative drivers in PDAC, including KRAS, SF3B1, BRAF, MYC and MET. Although a larger cohort is needed to validate these findings, our results could be pointing toward potential differences in contributing factors for PDAC in Latin-American populations.
Insights
Pancreatic ductal adenocarcinoma (PDAC) in Mexican patients shows fewer common mutations than expected. This study highlights potential unique genetic drivers in Latin American populations, requiring further investigation.
Area of Science:
- Oncology
- Genomics
- Cancer Research
Background:
- Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal cancer with poor survival rates.
- Known recurrent mutations (KRAS, CDKN2A, TP53, SMAD4) are common in PDAC, primarily studied in Western populations.
- The mutational landscape of PDAC in diverse ethnic cohorts remains under-explored.
Purpose of the Study:
- To analyze the exome and transcriptome of PDAC tumors from Mexican patients.
- To identify recurrent mutations and copy number aberrations in this underrepresented population.
- To explore potential differences in PDAC etiology across different ethnic groups.
Main Methods:
- Whole exome and transcriptome sequencing of four PDAC tumors from Mexican patients.
- Bioinformatic analysis to identify somatic mutations and copy number alterations.
- Comparison with existing PDAC mutation databases.
Main Results:
- A low frequency of previously described recurrent PDAC mutations was observed.
- Mutations in HERC2, CNTNAP2, and HMCN1 were found at >1% frequency.
- Recurrent copy number aberrations were identified in SKP2, BRAF, CSF1R, FOXE1, JAK2, and MET.
- Putative driver genes including KRAS, SF3B1, BRAF, MYC, and MET showed alterations.
Conclusions:
- The mutational profile of PDAC in Mexican patients may differ from Western cohorts.
- Specific genes like HERC2, CNTNAP2, HMCN1, and copy number alterations in SKP2, BRAF, CSF1R, FOXE1, JAK2, and MET warrant further investigation.
- Findings suggest potential unique contributing factors for PDAC in Latin American populations, necessitating larger-scale studies.
