DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands

SIMPLE SUMMARY: Lynch syndrome is caused by germline pathogenic variants in the DNA mismatch repair (MMR) genes predisposing carriers to colorectal and endometrial cancer. Genetic testing for Lynch syndrome, in the form of multigene panel testing, frequently identifies variants of uncertain clinical...

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Detalles Bibliográficos
Autores principales: Walker, Romy, Mahmood, Khalid, Como, Julia, Clendenning, Mark, Joo, Jihoon E., Georgeson, Peter, Joseland, Sharelle, Preston, Susan G., Pope, Bernard J., Chan, James M., Austin, Rachel, Bojadzieva, Jasmina, Campbell, Ainsley, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Ip, Emilia, Kirk, Judy, Mansour, Julia, Mar Fan, Helen, Nichols, Cassandra, Pachter, Nicholas, Ragunathan, Abiramy, Spigelman, Allan, Susman, Rachel, Christie, Michael, Jenkins, Mark A., Pai, Rish K., Rosty, Christophe, Macrae, Finlay A., Winship, Ingrid M., Buchanan, Daniel D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605939/
https://www.ncbi.nlm.nih.gov/pubmed/37894291
http://dx.doi.org/10.3390/cancers15204925

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