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...

সম্পূর্ণ বিবরণ

সংরক্ষণ করুন:
গ্রন্থ-পঞ্জীর বিবরন
প্রকাশিত:Cold Spring Harb Mol Case Stud
প্রধান লেখক: 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.
বিন্যাস: Artigo
ভাষা:Inglês
প্রকাশিত: Cold Spring Harbor Laboratory Press 2019
বিষয়গুলি:
Research Report
অনলাইন ব্যবহার করুন: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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