Ontology highlight
ABSTRACT:
SUBMITTER: Thibodeau ML
PROVIDER: S-EPMC6549570 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Thibodeau My Linh ML Zhao Eric Y EY Reisle Caralyn C Ch'ng Carolyn C Wong Hui-Li HL Shen Yaoqing Y Jones Martin R MR Lim Howard J HJ Young Sean S Cremin Carol C Pleasance Erin E Zhang Wei W Holt Robert R Eirew Peter P Karasinska Joanna J Kalloger Steve E SE Taylor Greg G Majounie Elisa E Bonakdar Melika M Zong Zusheng Z Bleile Dustin D Chiu Readman R Birol Inanc I Gelmon Karen K Lohrisch Caroline C Mungall Karen L KL Mungall Andrew J AJ Moore Richard R Ma Yussanne P YP Fok Alexandra A Yip Stephen S Karsan Aly A Huntsman David D Schaeffer David F DF Laskin Janessa J Marra Marco A MA Renouf Daniel J DJ Jones Steven J M SJM Schrader Kasmintan A KA
Cold Spring Harbor molecular case studies 20190401 2
We report a case of early-onset pancreatic ductal adenocarcinoma in a patient harboring biallelic <i>MUTYH</i> germline mutations, whose tumor featured somatic mutational signatures consistent with defective <i>MUTYH</i>-mediated base excision repair and the associated driver <i>KRAS</i> transversion mutation p.Gly12Cys. Analysis of an additional 730 advanced cancer cases (<i>N</i> = 731) was undertaken to determine whether the mutational signatures were also present in tumors from germline <i>M ...[more]