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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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2019
Konular:
Research Report
Online Erişim: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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