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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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Pubblicato in:Cold Spring Harb Mol Case Stud
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2019
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Accesso online: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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