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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations

Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of...

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Detalles Bibliográficos
Autores principales: Yehia, Lamis, Ni, Ying, Sesock, Kaitlin, Niazi, Farshad, Fletcher, Benjamin, Chen, Hannah Jin Lian, LaFramboise, Thomas, Eng, Charis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933810/
https://www.ncbi.nlm.nih.gov/pubmed/29684080
http://dx.doi.org/10.1371/journal.pgen.1007352