Scholarship 09/15386-6 - Genes supressores de tumor, Endocrinologia - BV FAPESP
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Analysis of the CDKN1A, CDKN1B, CDKN2B and CDKN2C genes in multiple endocrine neoplasias type 1 and 2.

Grant number: 09/15386-6
Support Opportunities:Scholarships in Brazil - Post-Doctoral
Start date until: May 01, 2010
End date until: April 30, 2012
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Maria Candida Barisson Villares Fragoso
Grantee:Rodrigo de Almeida Toledo
Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Multiple endocrine neoplasias (MENs) are tumoral familial syndromes which involve several endocrine glands (pituitary, parathyroids, thyroid, endocrine pancreas and adrenal). Patients with MEN type 1 (MEN1) usually carry inactivating mutations in the MEN1 gene, while patients with MEN type 2 (MEN2) usually carry activating mutations in the RET proto-oncogene. Recently, patients with MENs but not carrying MEN1 and RET mutations were reported with rare germline mutations in the CDKN1A, CDKN1B, CDKN2B and CDKN2C tumor suppressor genes, which encodes for the cyclin-dependent kinase inhibitors (p15, p18, p21 and p27, respectively). The role of these genes in the clinical features of patients harboring disease-causing RET or MEN1 mutations has not been investigated so far. In the current study, we sought to analyze these new MEN-related tumor suppressor genes in RET- and MEN1-mutated patients, in order to clarify whether they play a role in the susceptibility and tumorigenesis of endocrine tumors in these patients.

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Scientific publications (19)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
LOURENCO, JR., DELMAR M.; COUTINHO, FLAVIA L.; TOLEDO, RODRIGO A.; GONCALVES, TATIANA DENCK; MONTENEGRO, FABIO L. M.; TOLEDO, SERGIO P. A.. Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1. Clinics, v. 67, n. 1, p. 99-108, . (09/15386-6)
DE MENEZES MONTENEGRO, FABIO LUIZ; LOURENCO JUNIOR, DELMAR MUNIZ; TAVARES, MARCOS ROBERTO; ARAP, SERGIO SAMIR; NASCIMENTO JUNIOR, CLIMERIO PEREIRA; MASSONI NETO, LEDO MAZZEI; D'ALESSANDRO, ANDRE; TOLEDO, RODRIGO ALMEIDA; COUTINHO, FLAVIA LIMA; BRANDAO, LENINE GARCIA; et al. Total parathyroidectomy in a large cohort of cases with hyperparathyroidism associated with multiple endocrine neoplasia type 1: experience from a single academic center. Clinics, v. 67, n. 1, p. 131-139, . (09/15386-6)
YAO, LI; SCHIAVI, FRANCESCA; CASCON, ALBERTO; QIN, YUEJUAN; INGLADA-PEREZ, LUCIA; KING, ELIZABETH E.; TOLEDO, RODRIGO A.; ERCOLINO, TONINO; RAPIZZI, ELENA; RICKETTS, CHRISTOPHER J.; et al. Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas. JAMA, v. 304, n. 23, p. 2611-2619, . (09/15386-6)
QUEDAS, ELISANGELA P. S.; LONGUINI, VIVIANE C.; SEKIYA, TOMOKO; COUTINHO, FLAVIA L.; TOLEDO, SERGIO P. A.; TANNURI, UENIS; TOLEDO, RODRIGO A.. RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family. Clinics, v. 67, n. 1, p. 57-61, . (09/15386-6)
SEKIYA, TOMOKO; BRONSTEIN, MARCELLO D.; BENFINI, KATIUSCIA; LONGUINI, VIVIANE C.; JALLAD, RAQUEL S.; MACHADO, MARCIO C.; GONCALVES, TATIANA D.; OSAKI, LUCIANA H.; HIGASHI, LEONARDO; VIANA-, JR., JOSE; et al. p27 variant and corticotropinoma susceptibility: a genetic and in vitro study. Endocrine-Related Cancer, v. 21, n. 3, p. 395-404, . (09/15386-6, 09/11942-1, 13/01476-9)
AGRAWAL, NISHANT; JIAO, YUCHEN; SAUSEN, MARK; LEARY, REBECCA; BETTEGOWDA, CHETAN; ROBERTS, NICHOLAS J.; BHAN, SHEETAL; HO, ALLEN S.; KHAN, ZUBAIR; BISHOP, JUSTIN; et al. Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 98, n. 2, p. E364-E369, . (09/15386-6)
GONCALVES, TATIANA D.; TOLEDO, RODRIGO A.; SEKIYA, TOMOKO; MATUGUMA, SERGIO E.; MALUF FILHO, FAUZE; ROCHA, MANOEL S.; SIQUEIRA, SHEILA A. C.; GLEZER, ANDREA; BRONSTEIN, MARCELO D.; PEREIRA, MARIA A. A.; et al. Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 99, n. 1, p. E89-E96, . (09/15386-6, 09/11942-1)
PERONI, CIBELE N.; HAYASHIDA, CESAR Y.; NASCIMENTO, NANCY; LONGUINI, VIVIANE C.; TOLEDO, RODRIGO A.; BARTOLINI, PAOLO; BOWERS, CYRIL Y.; TOLEDO, SERGIO P. A.. Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient Little mice. Clinics, v. 67, n. 3, p. 8-pg., . (09/15386-6)
DE MENEZES MONTENEGRO, FABIO LUIZ; LOURENCO JUNIOR, DELMAR MUNIZ; TAVARES, MARCOS ROBERTO; ARAP, SERGIO SAMIR; NASCIMENTO JUNIOR, CLIMERIO PEREIRA; MASSONI NETO, LEDO MAZZEI; D'ALESSANDRO, ANDRE; TOLEDO, RODRIGO ALMEIDA; COUTINHO, FLAVIA LIMA; BRANDAO, LENINE GARCIA; et al. Total parathyroidectomy in a large cohort of cases with hyperparathyroidism associated with multiple endocrine neoplasia type 1: experience from a single academic center. Clinics, v. 67, p. 9-pg., . (09/15386-6)
PERONI, CIBELE N.; HAYASHIDA, CESAR Y.; NASCIMENTO, NANCY; LONGUINI, VIVIANE C.; TOLEDO, RODRIGO A.; BARTOLINI, PAOLO; BOWERS, CYRIL Y.; TOLEDO, SERGIO P. A.. Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient Little mice. Clinics, v. 67, n. 3, p. 265-272, . (09/15386-6)
TOLEDO, RODRIGO A.; SEKIYA, TOMOKO; LONGUINI, VIVIANE C.; COUTINHO, FLAVIA L.; LOURENCO, JR., DELMAR M.; TOLEDO, SERGIO P. A.. Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil. Clinics, v. 67, n. 1, p. 3-6, . (09/15386-6)
TAVARES, MARCOS R.; TOLEDO, SERGIO P. A.; MONTENEGRO, FABIO L. M.; MOYSES, RAQUEL A.; TOLEDO, RODRIGO A.; SEKYIA, TOMOKO; CERNEA, CLAUDIO R.; BRANDAO, LENINE G.. Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2. Clinics, v. 67, n. 1, p. 149-154, . (09/15386-6, 09/11942-1)
TOLEDO, SERGIO P. A.; LOURENCO, JR., DELMAR M.; TOLEDO, RODRIGO A.. A differential diagnosis of inherited endocrine tumors and their tumor counterparts. Clinics, v. 68, n. 7, p. 1039-1056, . (09/15386-6)
COUTINHO, FLAVIA L.; LOURENCO, JR., DELMAR M.; TOLEDO, RODRIGO A.; MONTENEGRO, FABIO L. M.; TOLEDO, SERGIO P. A.. Post-surgical follow-up of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Clinics, v. 67, n. 1, p. 169-172, . (09/15386-6)
LOURENCO, JR., DELMAR M.; COUTINHO, FLAVIA L.; TOLEDO, RODRIGO A.; MONTENEGRO, FABIO L. M.; CORREIA-DEUR, JOYA E. M.; TOLEDO, SERGIO P. A.. Early-Onset, Progressive, Frequent, Extensive, and Severe Bone Mineral and Renal Complications in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism. Journal of Bone and Mineral Research, v. 25, n. 11, p. 2382-2391, . (09/15386-6)
YAO, LI; SCHIAVI, FRANCESCA; CASCON, ALBERTO; QIN, YUEJUAN; INGLADA-PEREZ, LUCIA; KING, ELIZABETH E.; TOLEDO, RODRIGO A.; ERCOLINO, TONINO; RAPIZZI, ELENA; RICKETTS, CHRISTOPHER J.; et al. Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, v. 304, n. 23, p. 9-pg., . (09/15386-6)
TOLEDO, RODRIGO A.; SEKIYA, TOMOKO; LONGUINI, VIVIANE C.; COUTINHO, FLAVIA L.; LOURENCO, DELMAR M., JR.; TOLEDO, SERGIO P. A.. Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil. Clinics, v. 67, p. 4-pg., . (09/15386-6)
QUEDAS, ELISANGELA P. S.; LONGUINI, VIVIANE C.; SEKIYA, TOMOKO; COUTINHO, FLAVIA L.; TOLEDO, SERGIO P. A.; TANNURI, UENIS; TOLEDO, RODRIGO A.. RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family. Clinics, v. 67, p. 5-pg., . (09/15386-6)
TAVARES, MARCOS R.; TOLEDO, SERGIO P. A.; MONTENEGRO, FABIO L. M.; MOYSES, RAQUEL A.; TOLEDO, RODRIGO A.; SEKYIA, TOMOKO; CERNEA, CLAUDIO R.; BRANDAO, LENINE G.. Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2. Clinics, v. 67, p. 6-pg., . (09/15386-6)

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