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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Bibliografski detalji
Izdano u:Gut
Glavni autori: 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
Jezik:Inglês
Izdano: 2021
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Article
Online pristup: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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