GRCh37 · COSMIC v97


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Pancreatic ductal adenocarcinomas from Mexican patients present a distinct genomic mutational pattern.
Paper ID
Sanchez P, Espinosa M, Maldonado V, Barquera R, Belem-Gabiño N, Torres J, Cravioto A and Melendez-Zajgla J
Functional Genomics Laboratory, Medical Research Subdirection, Instituto Nacional de Medicina Genomica, Periferico Sur 4809, Tlalpan, Arenal Tepepan, 14610, Mexico, Mexico.
Molecular biology reports, 2020
ISSN: 1573-4978
PMID: 32583281 (view at PubMed or Europe PMC)
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.
Paper Status