Cargando…
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...
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 |
Ejemplares similares
-
Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
por: Yehia, Lamis, et al.
Publicado: (2017) -
Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome
por: Yehia, Lamis, et al.
Publicado: (2019) -
Bannayan Ruvalcaba Riley Syndrome
por: Sagi, Sashidhar V., et al.
Publicado: (2014) -
Thyroid Involvement in Two Patients with Bannayan-Riley-Ruvalcaba Syndrome
por: Peiretti, Valentina, et al.
Publicado: (2013) -
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in
infant - Case report
por: Gontijo, Gabriela Maria Abreu, et al.
Publicado: (2013)