SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy response

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare RCC subtype that is caused by biallelic mutation of one of the four subunits of the SDH complex (SDHA, B, C, and D) and results in inactivation of the SDH enzyme. Here we describe a case of genetically characterized SDH-def...

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Detalles Bibliográficos
Autores principales: McEvoy, Christopher R., Koe, Lisa, Choong, David Y., Leong, Huei San, Xu, Huiling, Karikios, Deme, Plew, Jeffrey D., Prall, Owen W., Fellowes, Andrew P., Fox, Stephen B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871886/
https://www.ncbi.nlm.nih.gov/pubmed/29872718
http://dx.doi.org/10.1038/s41698-018-0053-2

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