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. 2020 Jul;47(7):5175-5184.
doi: 10.1007/s11033-020-05592-3. Epub 2020 Jun 24.

Pancreatic ductal adenocarcinomas from Mexican patients present a distinct genomic mutational pattern

Paulina Sanchez  1 , Magali Espinosa  1 , Vilma Maldonado  2 , Rodrigo Barquera  3 , Nayeli Belem-Gabiño  4 , Javier Torres  5 , Adrian Cravioto  6   7 , Jorge Melendez-Zajgla  8
Affiliations

Pancreatic ductal adenocarcinomas from Mexican patients present a distinct genomic mutational pattern

Paulina Sanchez et al. Mol Biol Rep. 2020 Jul.

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.

Keywords: Exome sequencing; PDAC.

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