A Pathogenic Variant Reclassified to the Pseudogene PMS2P1 in a Patient with Suspected Hereditary Cancer

The PMS2 gene is involved in DNA repair by the mismatch repair pathway. Deficiencies in this mechanism have been associated with Lynch Syndrome (LS), which is characterized by a high risk for colorectal, endometrial, ovarian, breast, and other cancers. Germinal pathogenic variants of PMS2 are associ...

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Detalles Bibliográficos
Autores principales: Fragoso-Ontiveros, Veronica, De la Fuente-Hernandez, Marcela Angelica, Gonzalez-Osnaya, Vincent, Gamez-Rosales, Mario, Perez-Montiel, Maria Delia, Isla-Ortiz, David, Cantu-De Leon, David Francisco, Alvarez-Gomez, Rosa Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864156/
https://www.ncbi.nlm.nih.gov/pubmed/36674914
http://dx.doi.org/10.3390/ijms24021398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864156/
https://www.ncbi.nlm.nih.gov/pubmed/36674914
http://dx.doi.org/10.3390/ijms24021398

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