Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, andKRASproto-oncogene,GTPase/NRASproto-oncogene,GTPasegenes of patients with myelodysplastic syndrome

dc.creatorLeite, Carolina
dc.creatorDelmonico, Lucas
dc.creatorAlves, Gilda
dc.creatorGomes, Romario José
dc.creatorMartino, Mariana Rodrigues
dc.creatorSilva, Aline Rodrigues da
dc.creatorMoreira, Aline dos Santos
dc.creatorMaioli, Maria Christina
dc.creatorScherrer, Luciano Rios
dc.creatorBastos, Elenice Ferreira
dc.creatorIrineu, Roberto
dc.creatorOrnellas, Maria Helena
dc.date2018-02-27T17:27:55Z
dc.date2018-02-27T17:27:55Z
dc.date2017
dc.date.accessioned2023-09-26T23:08:23Z
dc.date.available2023-09-26T23:08:23Z
dc.identifierLEITE, Carolina; et al. Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and KRAS proto-oncogene, GTPase/NRAS proto-oncogene, GTPase genes of patients with myelodysplastic syndrome. Biomedical Reports, v.7, p.343-348, 2017.
dc.identifier2049-9434
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/24986
dc.identifier10.3892/br.2017.965
dc.identifier2049-9442
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8887279
dc.descriptionO autor pode arquivar a versão/PDF do editor, estando sujeito às restrições abaixo Restrições: 6 meses de embargo Condições gerais: Tem de ser utilizada a versão/PDF do editor - On Institutional Repository or Funder's repository
dc.descriptionMyelodysplastic syndrome (MDS) is a heterogeneous group of clonal bone marrow disorders characterized by ineffective hematopoiesis, different degrees of cellular dysplasia, and increased risk of progression to acute myeloid leukemia. International Prognostic Scoring System is the gold standard for MDS classification; however, patients exhibiting different clinical behaviors often coexist in the same group, indicating that the currently available scoring systems are insufficient. The genes that have recently been identified as mutated in MDS, including additional sex combs like 1, transcriptional regulator (ASXL1), tumor protein p53 (TP53), andKRASproto-oncogene andGTPase(KRAS)/NRASproto-oncogene,GTPase(NRAS), may contribute to a more comprehensive classification, as well as to the prognosis and progression of the disease. In the present study, the mutations in theASXL1,TP53andNRAS/KRASgenes in 50 patients were evaluated by sequencing genomic bone marrow DNA. Nine patients (18%) presented with at least one type of mutation. Mutations inTP53were the most frequent in six patients (12%), followed byASXL1in two patients (4%) andNRASin one patient (2%). The nine mutations were detected in patients with low- and high-risk MDS. The screening of mutations in MDS cases contributes to the application of personalized medicine.
dc.formatapplication/pdf
dc.languageeng
dc.publisherSpandidos Publications
dc.rightsopen access
dc.subjectSíndromes Mielodisplásicas
dc.subjectregulador de transcrição
dc.subjectproteína tumoral p53
dc.subjectmyelodysplastic syndrome
dc.subjectadditional sex combs like 1
dc.subjecttranscriptional regulator
dc.subjecttumor protein p53
dc.subjectKRAS proto‑oncogene
dc.subjectGTPase/NRAS proto-oncogene
dc.subjectGTPase
dc.subjectGTP Fosfo-Hidrolases
dc.titleScreening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, andKRASproto-oncogene,GTPase/NRASproto-oncogene,GTPasegenes of patients with myelodysplastic syndrome
dc.typeArticle


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