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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549570/
https://ncbi.nlm.nih.gov/pubmed/30833417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003681
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