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

Sanchez, P., Espinosa, M., Maldonado, V., Barquera, R., Belem-Gabiño, N., Torres, J., et al. (2020). Pancreatic ductal adenocarcinomas from Mexican patients present a distinct genomic mutational pattern. Molecular Biology Reports, s11033-020-05592-3. doi:10.1007/s11033-020-05592-3.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0006-9DF5-5 Version Permalink: http://hdl.handle.net/21.11116/0000-0006-9E7F-B
Genre: Journal Article

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 Creators:
Sanchez, Paulina, Author
Espinosa, Magali, Author
Maldonado, Vilma, Author
Barquera, Rodrigo1, Author              
Belem-Gabiño, Nayeli, Author
Torres, Javier, Author
Cravioto, Adrian, Author
Melendez-Zajgla, Jorge, Author
Affiliations:
1Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society, ou_2074310              

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Free keywords: PDAC, Exome sequencing
 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.

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Language(s): eng - English
 Dates: 2020-06-24
 Publication Status: Published online
 Pages: 10
 Publishing info: -
 Table of Contents: Introduction. - Materials and methods (sample collection, sample processing, nuclelc acid extraction, exome sequencing, validation, interaction networks, ancestry analysis, data availlability). - Results. - Discussions
 Rev. Method: Peer
 Identifiers: DOI: 10.1007/s11033-020-05592-3
Other: shh2644
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Title: Molecular Biology Reports
Source Genre: Journal
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Publ. Info: The Hague [etc.] : W. Junk [etc.]
Pages: - Volume / Issue: - Sequence Number: s11033-020-05592-3 Start / End Page: - Identifier: ISSN: 0301-4851
CoNE: https://pure.mpg.de/cone/journals/resource/954925510393