Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH underlie hereditary colorectal cancer (CRC) and polyposis syndromes. We evaluated the robustness and discriminatory potential of tumour mutational signatures in CRCs for id...

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Bibliografiske detaljer
Udgivet i:Gut
Main Authors: Georgeson, Peter, Pope, Bernard J., Rosty, Christophe, Clendenning, Mark, Mahmood, Khalid, Joo, Jihoon E., Walker, Romy, Hutchinson, Ryan, Preston, Susan, Como, Julia, Joseland, Sharelle, Win, Aung K., Macrae, Finlay A., Hopper, John L., Mouradov, Dmitry, Gibbs, Peter, Sieber, Oliver M., O’Sullivan, Dylan E., Brenner, Darren R., Gallinger, Steve, Jenkins, Mark A., Winship, Ingrid M., Buchanan, Daniel D.
Format: Artigo
Sprog:Inglês
Udgivet: 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260632/
https://ncbi.nlm.nih.gov/pubmed/33414168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/gutjnl-2019-320462
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