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Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53

Cowden syndrome (CS), a Mendelian autosomal-dominant disorder, predisposes to breast, thyroid and other cancers. Germline mutations in phosphatase and tensin homolog (PTEN) have been recently reported in 23% of a large series of classic CS. Here, we validated our small (n = 10) pilot study in a larg...

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Detalles Bibliográficos
Autores principales: Ni, Ying, He, Xin, Chen, Jinlian, Moline, Jessica, Mester, Jessica, Orloff, Mohammed S., Ringel, Matthew D., Eng, Charis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276278/
https://www.ncbi.nlm.nih.gov/pubmed/21979946
http://dx.doi.org/10.1093/hmg/ddr459