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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Detaylı Bibliyografya
Yayımlandı:Gut
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2021
Konular:
Article
Online Erişim: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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