Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis

We report a case of early-onset pancreatic ductal adenocarcinoma in a patient harboring biallelic MUTYH germline mutations, whose tumor featured somatic mutational signatures consistent with defective MUTYH-mediated base excision repair and the associated driver KRAS transversion mutation p.Gly12Cys...

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Detalles Bibliográficos
Autores principales: Thibodeau, My Linh, Zhao, Eric Y., Reisle, Caralyn, Ch'ng, Carolyn, Wong, Hui-Li, Shen, Yaoqing, Jones, Martin R., Lim, Howard J., Young, Sean, Cremin, Carol, Pleasance, Erin, Zhang, Wei, Holt, Robert, Eirew, Peter, Karasinska, Joanna, Kalloger, Steve E., Taylor, Greg, Majounie, Elisa, Bonakdar, Melika, Zong, Zusheng, Bleile, Dustin, Chiu, Readman, Birol, Inanc, Gelmon, Karen, Lohrisch, Caroline, Mungall, Karen L., Mungall, Andrew J., Moore, Richard, Ma, Yussanne P., Fok, Alexandra, Yip, Stephen, Karsan, Aly, Huntsman, David, Schaeffer, David F., Laskin, Janessa, Marra, Marco A., Renouf, Daniel J., Jones, Steven J.M., Schrader, Kasmintan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549570/
https://www.ncbi.nlm.nih.gov/pubmed/30833417
http://dx.doi.org/10.1101/mcs.a003681

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