Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal cancer. We test 5649 colorectal cancers to evaluate the discriminatory potential of a tumor mutational signature specific to MUTYH for identifying biallelic carriers and classifying variants of uncert...

Descripción completa

Detalles Bibliográficos
Autores principales: Georgeson, Peter, Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Steinfelder, Robert S., Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Amitay, Efrat L., Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Gsur, Andrea, Gunter, Marc J., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Limburg, Paul, Manson, JoAnn E., Moreno, Victor, Nassir, Rami, Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Phipps, Amanda I., Potter, John D., Schoen, Robert E., Sun, Wei, Toland, Amanda E., Trinh, Quang M., Ugai, Tomotaka, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Jenkins, Mark A., Thibodeau, Stephen N., Winship, Ingrid M., Peters, Ulrike, Buchanan, Daniel D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170691/
https://www.ncbi.nlm.nih.gov/pubmed/35668106
http://dx.doi.org/10.1038/s41467-022-30916-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170691/
https://www.ncbi.nlm.nih.gov/pubmed/35668106
http://dx.doi.org/10.1038/s41467-022-30916-1

Ejemplares similares