title: Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
abstract: Disruption of the Krebs cycle is a hallmark of cancer. IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in SDH genes and FH predispose to pheochromocytoma/paraganglioma and other cancers. We describe a paraganglioma family carrying a germline mutation in MDH2, which encodes a Krebs cycle enzyme. Whole-exome sequencing was applied to tumor DNA obtained from a man age 55 years diagnosed with multiple malignant paragangliomas. Data were analyzed with the two-sided Student's t and Mann-Whitney U tests with Bonferroni correction for multiple comparisons. Between six- and 14-fold lower levels of MDH2 expression were observed in MDH2-mutated tumors compared with control patients. Knockdown (KD) of MDH2 in HeLa cells by shRNA triggered the accumulation of both malate (mean ± SD: wild-type [WT] = 1±0.18; KD = 2.24±0.17, P = .043) and fumarate (WT = 1±0.06; KD = 2.6±0.25, P = .033), which was reversed by transient introduction of WT MDH2 cDNA. Segregation of the mutation with disease and absence of MDH2 in mutated tumors revealed MDH2 as a novel pheochromocytoma/paraganglioma susceptibility gene.
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Cascón
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Iñaki
authors.initials: I
authors.lastname: Comino-Méndez
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Currás-Freixes
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Aguirre A
authors.initials: AA
authors.lastname: de Cubas
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Contreras
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Susan
authors.initials: S
authors.lastname: Richter
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Mirko
authors.initials: M
authors.lastname: Peitzsch
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Veronika
authors.initials: V
authors.lastname: Mancikova
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Lucía
authors.initials: L
authors.lastname: Inglada-Pérez
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Andrés
authors.initials: A
authors.lastname: Pérez-Barrios
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Calatayud
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Sharona
authors.initials: S
authors.lastname: Azriel
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Villar-Vicente
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Aller
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Setién
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Moran
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Juan F
authors.initials: JF
authors.lastname: Garcia
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Río-Machín
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Rocío
authors.initials: R
authors.lastname: Letón
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Álvaro
authors.initials: Á
authors.lastname: Gómez-Graña
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Apellániz-Ruiz
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Roncador
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Manel
authors.initials: M
authors.lastname: Esteller
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Rodríguez-Antona
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Jorgina
authors.initials: J
authors.lastname: Satrústegui
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Graeme
authors.initials: G
authors.lastname: Eisenhofer
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Urioste
authors.affiliation: : Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain (AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR); Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain (AC, LC, LIP, CRA, JS, MU, MR); Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain (LC, JS); Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany (SR, MP, GE); Departments of Pathology (APB) and Endocrinology and Nutrition Service (MC), Hospital 12 de Octubre, Madrid, Spain; Endocrinology Service, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain (SA); Department of Endocrinology and Nutrition Service, Hospital de Fuenlabrada, Madrid, Spain (RVV); Endocrinology Service, Hospital Puerta de Hierro, Majadahonda, Madrid, Spain (JA); Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet, Barcelona, Spain (FS, SM, ME); Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain (JFG); Molecular Cytogenetics Group (ARM), Monoclonal Antibodies Unit, Biotechnology Programme (GR), and Familial Cancer Clinical Unit (MU), Spanish National Cancer Research Centre, Madrid, Spain. acascon@cnio.es mrobledo@cnio.es.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Robledo
mesh_terms: D002952:Citric Acid Cycle; D004273:DNA, Neoplasm / Q000032:analysis*; D015536:Down-Regulation; D059472:Exome; D005650:Fumarates / Q000378:metabolism; D015971:Gene Expression Regulation, Enzymologic; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006367:HeLa Cells; D006801:Humans; D008291:Malate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D008293:Malates / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010235:Paraganglioma / Q000235:genetics* / Q000378:metabolism*; D010673:Pheochromocytoma / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D004273:DNA, Neoplasm; D005650:Fumarates; D008293:Malates; C030298:malic acid; C032005:fumaric acid; D008291:Malate Dehydrogenase