Gain-of-function mutations in DNMT3A in patients with paraganglioma.,Genetics in Medicine

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Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-May-08 , DOI: 10.1038/s41436-018-0003-y
Laura Remacha ₁ , Maria Currás-Freixes ₁ , Raúl Torres-Ruiz ₂ , Francesca Schiavi ₃ , Rafael Torres-Pérez ₁ , Bruna Calsina ₁ , Rocío Letón ₁ , Iñaki Comino-Méndez ₁ , Juan M Roldán-Romero ₁ , Cristina Montero-Conde ₁ , María Santos ₁ , Lucía Inglada Pérez ₁ , Guillermo Pita ₄ , María R Alonso ₄ , Emiliano Honrado ₅ , Susana Pedrinaci ₆ , Benedicto Crespo-Facorro ₇ , Antonio Percesepe ₈ , Maurizio Falcioni ₉ , Sandra Rodríguez-Perales ₂ , Esther Korpershoek ₁₀ , Santiago Ramón-Maiques ₁₁ , Giuseppe Opocher ₃ , Cristina Rodríguez-Antona _{1,

12} , Mercedes Robledo _{1,

12} , Alberto Cascón _{1,

12}

Affiliation

Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Molecular Cytogenetics Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Veneto Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico, Padua, Italy.
Human Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Anatomical Pathology Service, Hospital de León, León, Spain.
Department of Genetics, Hospital Universitario Virgen de las Nieves, Granada, Spain.
University of Cantabria and HU Marqués de Valdecilla-IDIVAL, CIBER Mental Health Santander, Santander, Spain.
Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Otolaryngology and Otoneurosurgery Department, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy.
Department of Pathology, Erasmus Medical Center Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Structural Bases of Genome Integrity Group, Structural Biology and Biocomputing Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of disease in patients strongly suspected of having hereditary tumors.

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