A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report

Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. However, mosaic variants in the MMR genes have been rarely described. We identified a likely de novo mosaic MSH6:c.1135_1139del p.Arg379* pathogenic varian...

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Detalles Bibliográficos
Autores principales: Walker, Romy, Clendenning, Mark, Joo, Jihoon E., Xue, Jessie, Mahmood, Khalid, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Chan, James M., Jenkins, Mark A., Rosty, Christophe, Macrae, Finlay A., Di Palma, Stephanie, Campbell, Ainsley, Winship, Ingrid M., Buchanan, Daniel D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541337/
https://www.ncbi.nlm.nih.gov/pubmed/37318702
http://dx.doi.org/10.1007/s10689-023-00337-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541337/
https://www.ncbi.nlm.nih.gov/pubmed/37318702
http://dx.doi.org/10.1007/s10689-023-00337-0

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