dc.creator | Pena Couso, Laura | es |
dc.creator | Ercibengoa, María | es |
dc.creator | Mercadillo, Fátima | es |
dc.creator | Gómez Sánchez, David | es |
dc.creator | Inglada Pérez, Lucía | es |
dc.creator | Santos, María | es |
dc.creator | Cózar León, María Victoria | es |
dc.date.accessioned | 2023-05-10T13:03:54Z | |
dc.date.available | 2023-05-10T13:03:54Z | |
dc.date.issued | 2022-02-28 | |
dc.identifier.citation | Pena Couso, L., Ercibengoa, M., Mercadillo, F., Gómez Sánchez, D., Inglada Pérez, L., Santos, M. y Cózar León, M.V. (2022). Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome clinical and genetic study in a series of Spanish patients. Orphanet Journal of Rare Diseases, 17 (1), 85. https://doi.org/10.1186/s13023-021-02079-7. | |
dc.identifier.issn | 1750-1172 | es |
dc.identifier.uri | https://hdl.handle.net/11441/145798 | |
dc.description.abstract | Background
The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease.
Results
We reviewed the clinical data collected through a specific questionnaire in a series of 145 Spanish patients with a phenotypic features compatible with PHTS and performed molecular characterization through several approaches including next generation sequencing and whole exome sequencing (WES). Macrocephaly, mucocutaneous lesions, gastrointestinal polyposis and obesity are prevalent phenotypic features in PHTS and help predict the presence of a PTEN germline variant in our population. We also find that PHTS patients are at risk to develop cancer in childhood or adolescence. Furthermore, we observe a high frequency of variants in exon 1 of PTEN, which are associated with renal cancer and overexpression of KLLN and PTEN. Moreover, WES revealed variants in genes like NEDD4 that merit further research.
Conclusions
This study expands previously reported findings in other PHTS population studies and makes new contributions regarding clinical and molecular aspects of PHTS, which are useful for translation to the clinic and for new research lines. | es |
dc.format | application/pdf | es |
dc.format.extent | 11 p. | es |
dc.language.iso | eng | es |
dc.publisher | BMC | es |
dc.relation.ispartof | Orphanet Journal of Rare Diseases, 17 (1), 85. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | PTEN hamartoma tumor syndrome | es |
dc.subject | Cowden syndrome | es |
dc.subject | PTEN gene | es |
dc.subject | NGS | es |
dc.subject | Exome | es |
dc.title | Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome clinical and genetic study in a series of Spanish patients | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.projectID | PI14/00459 | es |
dc.relation.projectID | BES-2015-071383 | es |
dc.relation.publisherversion | https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02079-7 | es |
dc.identifier.doi | 10.1186/s13023-021-02079-7 | es |
dc.journaltitle | Orphanet Journal of Rare Diseases | es |
dc.publication.volumen | 17 | es |
dc.publication.issue | 1 | es |
dc.publication.initialPage | 85 | es |
dc.contributor.funder | European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER) | es |
dc.contributor.funder | Ministerio de Economía y Competitividad (MINECO). España | es |
dc.contributor.funder | European Commission. Fondo Social Europeo (FSO) | es |
dc.contributor.funder | Federacion Española de Enfermedades Raras | es |