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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 type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): May 01, 2010
Effective date (End): April 30, 2012
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Maria Candida Barisson Villares Fragoso
Grantee:Rodrigo de Almeida Toledo
Home 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.

Scientific publications (14)
(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)
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; KATER, CLAUDIO; LEE, MISU; MOLATORE, SARA; FRANCISCO, GUILHERME; CHAMMAS, ROGER; NASLAVSKY, MICHEL S.; SCHLESINGER, DAVID; GAMA, PATRICIA; DUARTE, YEDA A. O.; LEBRAO, MARIA LUCIA; ZATZ, MAYANA; MEIRELLES, OSORIO; LIBERMAN, BERNARDO; FRAGOSO, MARIA CANDIDA B. V.; TOLEDO, SERGIO P. A.; PELLEGATA, NATALIA S.; TOLEDO, RODRIGO A. p27 variant and corticotropinoma susceptibility: a genetic and in vitro study. Endocrine-Related Cancer, v. 21, n. 3, p. 395-404, JUN 2014. Web of Science Citations: 9.
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.; JUREIDINI, RICARDO; BACCHELLA, TELESFORO; MACHADO, MARCEL C. C.; TOLEDO, SERGIO P. A.; LOURENCO, JR., DELMAR M. 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, JAN 2014. Web of Science Citations: 28.
AGRAWAL, NISHANT; JIAO, YUCHEN; SAUSEN, MARK; LEARY, REBECCA; BETTEGOWDA, CHETAN; ROBERTS, NICHOLAS J.; BHAN, SHEETAL; HO, ALLEN S.; KHAN, ZUBAIR; BISHOP, JUSTIN; WESTRA, WILLIAM H.; WOOD, LAURA D.; HRUBAN, RALPH H.; TUFANO, RALPH P.; ROBINSON, BRUCE; DRALLE, HENNING; TOLEDO, SERGIO P. A.; TOLEDO, RODRIGO A.; MORRIS, LUC G. T.; GHOSSEIN, RONALD A.; FAGIN, JAMES A.; CHAN, TIMOTHY A.; VELCULESCU, VICTOR E.; VOGELSTEIN, BERT; KINZLER, KENNETH W.; PAPADOPOULOS, NICKOLAS; NELKIN, BARRY D.; BALL, DOUGLAS W. 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, FEB 2013. Web of Science Citations: 96.
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, 2013. Web of Science Citations: 8.
CIBELE N. PERONI; CESAR Y. HAYASHIDA; NANCY NASCIMENTO; VIVIANE C. LONGUINI; RODRIGO A. TOLEDO; PAOLO BARTOLINI; CYRIL Y. BOWERS; SERGIO P.A. TOLEDO. Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient Little mice. Clinics, v. 67, n. 3, p. -, 2012.
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, 2012. Web of Science Citations: 7.
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; DE BRITTO E SILVA FILHO, GILBERTO; CORDEIRO, ANOI CASTRO; ALMEIDA TOLEDO, SERGIO PEREIRA. 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, 2012. Web of Science Citations: 12.
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, 2012. Web of Science Citations: 11.
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, 2012. Web of Science Citations: 5.
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, 2012. Web of Science Citations: 3.
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, 2012. Web of Science Citations: 7.
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, 2012. Web of Science Citations: 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.; MORI, LUIGI; GIACCHE, MARA; MENDOLA, ANTONELLA; TASCHIN, ELISA; BOARETTO, FRANCESCA; LOLI, PAOLA; IACOBONE, MAURIZIO; ROSSI, GIAN-PAOLO; BIONDI, BERNADETTE; LIMA-JUNIOR, JOSE VIANA; KATER, CLAUDIO E.; BEX, MARIE; VIKKULA, MIIKKA; GROSSMAN, ASHLEY B.; GRUBER, STEPHEN B.; BARONTINI, MARTA; PERSU, ALEXANDRE; CASTELLANO, MAURIZIO; TOLEDO, SERGIO P. A.; MAHER, EAMONN R.; MANNELLI, MASSIMO; OPOCHER, GIUSEPPE; ROBLEDO, MERCEDES; DAHIA, PATRICIA L. M. Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas. JAMA, v. 304, n. 23, p. 2611-2619, DEC 15 2010. Web of Science Citations: 108.
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, NOV 2010. Web of Science Citations: 32.

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