PMID- 24920291 OWN - NLM STAT- MEDLINE DCOM- 20140922 LR - 20161018 IS - 1479-683X (Electronic) IS - 0804-4643 (Linking) VI - 171 IP - 3 DP - 2014 Sep TI - Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations. PG - 335-42 LID - 10.1530/EJE-14-0130 [doi] AB - OBJECTIVE: To date, no evidence of robust genotype-phenotype correlation or disease modifiers for multiple endocrine neoplasia type 1 (MEN1) syndrome has been described, leaving the highly variable clinical presentation of patients unaccounted for. DESIGN: As the CDKN1B (p27) gene causes MEN4 syndrome and it is transcriptionally regulated by the product of the MEN1 gene (menin), we sought to analyze whether p27 influences the phenotype of MEN1-mutated patients. The cohort consisted of 100 patients carrying germline MEN1 gene mutations and 855 population-matched control individuals. METHODS: Genotyping of the coding p27 c.326T>G (V109G) variant was performed by sequencing and restriction site digestion, and the genotypes were associated with clinical parameters by calculating odds ratios (ORs) and their 95% CIs using logistic regression. RESULTS: There were significant differences in p27 V109G allele frequencies between controls and MEN1-mutated patients (OR=2.55, P=0.019, CI=1.013-5.76). Among patients who are >/=30 years old carrying truncating MEN1 mutations, the T allele was strongly associated with susceptibility to tumors in multiple glands (three to four glands affected vs one to two glands affected; OR=18.33; P=0.002, CI=2.88-16.41). This finding remained significant after the Bonferroni's multiple testing correction, indicating a robust association. No correlations were observed with the development of MEN1-related tumors such as hyperparathyroidism, pituitary adenomas, and enteropancreatic and adrenocortical tumors. CONCLUSIONS: Our study suggests that the p27 tumor suppressor gene acts as a disease modifier for the MEN1 syndrome associated with MEN1 germline mutations. If confirmed in independent patient cohorts, this finding could facilitate the management of this clinically complex disease. CI - (c) 2014 European Society of Endocrinology. FAU - Longuini, Viviane C AU - Longuini VC AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Lourenco, Delmar M Jr AU - Lourenco DM Jr AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Sekiya, Tomoko AU - Sekiya T AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Meirelles, Osorio AU - Meirelles O AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Goncalves, Tatiana D AU - Goncalves TD AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Coutinho, Flavia L AU - Coutinho FL AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Francisco, Guilherme AU - Francisco G AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Osaki, Luciana H AU - Osaki LH AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Chammas, Roger AU - Chammas R AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Alves, Venancio A F AU - Alves VA AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Siqueira, Sheila A C AU - Siqueira SA AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Schlesinger, David AU - Schlesinger D AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, BrazilEndocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Naslavsky, Michel S AU - Naslavsky MS AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Zatz, Mayana AU - Zatz M AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Duarte, Yeda A O AU - Duarte YA AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Lebrao, Maria Lucia AU - Lebrao ML AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Gama, Patricia AU - Gama P AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Lee, Misu AU - Lee M AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Molatore, Sara AU - Molatore S AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Pereira, Maria Adelaide A AU - Pereira MA AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Jallad, Raquel S AU - Jallad RS AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Bronstein, Marcello D AU - Bronstein MD AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Cunha-Neto, Malebranche B AU - Cunha-Neto MB AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Liberman, Bernardo AU - Liberman B AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Fragoso, Maria Candida B V AU - Fragoso MC AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Toledo, Sergio P A AU - Toledo SP AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, BrazilEndocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Pellegata, Natalia S AU - Pellegata NS AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil. FAU - Toledo, Rodrigo A AU - Toledo RA AD - Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClinicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CerebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum Munchen, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil toledorodrigo@usp.br toledorodrigo79@gmail.com. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140611 PL - England TA - Eur J Endocrinol JT - European journal of endocrinology JID - 9423848 RN - 0 (MEN1 protein, human) RN - 0 (Proto-Oncogene Proteins) RN - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Cohort Studies MH - Cyclin-Dependent Kinase Inhibitor p27/*genetics MH - Female MH - Genetic Association Studies/*methods MH - Genetic Variation/*genetics MH - Germ-Line Mutation/*genetics MH - Humans MH - Male MH - Middle Aged MH - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics MH - Proto-Oncogene Proteins/*genetics MH - Young Adult EDAT- 2014/06/13 06:00 MHDA- 2014/09/23 06:00 CRDT- 2014/06/13 06:00 PHST- 2014/06/13 06:00 [entrez] PHST- 2014/06/13 06:00 [pubmed] PHST- 2014/09/23 06:00 [medline] AID - EJE-14-0130 [pii] AID - 10.1530/EJE-14-0130 [doi] PST - ppublish SO - Eur J Endocrinol. 2014 Sep;171(3):335-42. doi: 10.1530/EJE-14-0130. Epub 2014 Jun 11.