Somatic and germline mutations in NETs: Implications for their diagnosis and management.

[1]  A. Gimenez-Roqueplo,et al.  Rethinking pheochromocytomas and paragangliomas from a genomic perspective , 2016, Oncogene.

[2]  A. Grossman,et al.  SDHC MUTATIONS ARE ASSOCIATED WITH CARDIAC PARAGANGLIOMAS: A CASE REPORT OF A PATIENT WITH A DOPAMINE-SECRETING TUMOR AND REVIEW OF THE LITERATURE , 2015 .

[3]  R. Agarwala,et al.  A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase. , 2015, Gastroenterology.

[4]  A. Grossman,et al.  Neurofibromatosis Type 1 and pancreatic islet cell tumours: an association which should be recognized. , 2015, QJM : monthly journal of the Association of Physicians.

[5]  Juan F. García,et al.  Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. , 2015, Journal of the National Cancer Institute.

[6]  A. Teschendorff,et al.  Epigenetic dysregulation and poorer prognosis in DAXX-deficient pancreatic neuroendocrine tumours , 2015, Endocrine-related cancer.

[7]  Peter Kraft,et al.  Identification of Novel Genetic Markers of Breast Cancer Survival , 2015, Journal of the National Cancer Institute.

[8]  F. Izzo,et al.  Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1 , 2015, Journal of cellular and molecular medicine.

[9]  T. Wieland,et al.  Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. , 2015, The Journal of clinical endocrinology and metabolism.

[10]  V. Montori,et al.  Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: a systematic review , 2015, Clinical endocrinology.

[11]  Myung-Hwan Kim,et al.  Clinical features of pancreatic involvement in von Hippel–Lindau disease: a retrospective study of 55 cases in a single center , 2015, Scandinavian journal of gastroenterology.

[12]  A. Gimenez-Roqueplo,et al.  Paraganglioma and phaeochromocytoma: from genetics to personalized medicine , 2015, Nature Reviews Endocrinology.

[13]  O. Mete,et al.  Endocrine manifestations of von Hippel-Lindau disease. , 2015, Archives of pathology & laboratory medicine.

[14]  P. Hellman,et al.  Somatic Mutations and Genetic Heterogeneity at the CDKN1B Locus in Small Intestinal Neuroendocrine Tumors , 2015, Annals of Surgical Oncology.

[15]  Julian R. E. Davis,et al.  Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort , 2014, The Journal of clinical endocrinology and metabolism.

[16]  U. Shankavaram,et al.  Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia , 2014, Journal of Molecular Medicine.

[17]  A. Abacı,et al.  Endocrine cancer syndromes: an update. , 2014, Minerva pediatrica.

[18]  V. Fendrich,et al.  Higher risk of aggressive pancreatic neuroendocrine tumors in MEN1 patients with MEN1 mutations affecting the CHES1 interacting MENIN domain. , 2014, The Journal of clinical endocrinology and metabolism.

[19]  A. Rosenwald,et al.  Tumor genetics and survival of thymic neuroendocrine neoplasms: A multi‐institutional clinicopathologic study , 2014, Genes, chromosomes & cancer.

[20]  M. Simpson,et al.  Germline FH mutations presenting with pheochromocytoma. , 2014, The Journal of clinical endocrinology and metabolism.

[21]  M. Gos,et al.  Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease. , 2014, Developmental period medicine.

[22]  W. Linehan,et al.  The genetic basis of pheochromocytoma and paraganglioma: implications for management. , 2014, Urology.

[23]  G. Valk,et al.  Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: natural history and function of menin in tumorigenesis. , 2014, Endocrine-related cancer.

[24]  P. Rustin,et al.  Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. , 2014, Human molecular genetics.

[25]  S. Srikantan,et al.  The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function. , 2014, Human molecular genetics.

[26]  S. Gruber,et al.  The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3). , 2014, The Journal of clinical endocrinology and metabolism.

[27]  A. Meeker,et al.  Gastroenteropancreatic endocrine tumors , 2014, Molecular and Cellular Endocrinology.

[28]  K. Pacak,et al.  Familial pheochromocytomas and paragangliomas , 2014, Molecular and Cellular Endocrinology.

[29]  R. Thakker Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4) , 2014, Molecular and Cellular Endocrinology.

[30]  Jenny Welander,et al.  Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. , 2014, The Journal of clinical endocrinology and metabolism.

[31]  M. Papotti,et al.  H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series. , 2014, The Journal of clinical endocrinology and metabolism.

[32]  Martin Vingron,et al.  Frequent mutations in chromatin-remodeling genes in pulmonary carcinoids , 2014, Nature Communications.

[33]  E. Speel,et al.  Loss of DAXX and ATRX are associated with chromosome instability and reduced survival of patients with pancreatic neuroendocrine tumors. , 2014, Gastroenterology.

[34]  M. Papotti,et al.  MEN1 gene mutation and reduced expression are associated with poor prognosis in pulmonary carcinoids. , 2014, The Journal of clinical endocrinology and metabolism.

[35]  Jiaqian Wang,et al.  Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1 , 2013, Nature Communications.

[36]  Trevor J Pugh,et al.  Somatic mutation of CDKN1B in small intestine neuroendocrine tumors , 2013, Nature Genetics.

[37]  A. Grossman,et al.  Dandy-Walker malformation, papillary thyroid carcinoma, and SDHD-associated paraganglioma syndrome. , 2013, The Journal of clinical endocrinology and metabolism.

[38]  D. Lebwohl,et al.  Development of everolimus, a novel oral mTOR inhibitor, across a spectrum of diseases , 2013, Annals of the New York Academy of Sciences.

[39]  M. Santoro,et al.  Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. , 2013, The Journal of clinical endocrinology and metabolism.

[40]  E. Wieben,et al.  The genomic landscape of small intestine neuroendocrine tumors. , 2013, The Journal of clinical investigation.

[41]  C. Thirlwell,et al.  Neuroendocrine tumours: cracking the epigenetic code. , 2013, Endocrine-related cancer.

[42]  P. Chanson,et al.  Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study. , 2013, Human molecular genetics.

[43]  A. Tischler,et al.  New syndrome of paraganglioma and somatostatinoma associated with polycythemia. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[44]  C. Stratakis,et al.  An update on the genetics of pheochromocytoma , 2013, Journal of Human Hypertension.

[45]  K. Öberg The genetics of neuroendocrine tumors. , 2013, Seminars in oncology.

[46]  E. Bergsland The evolving landscape of neuroendocrine tumors. , 2013, Seminars in oncology.

[47]  M. Alevizaki,et al.  2012 European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid Cancer , 2012, European Thyroid Journal.

[48]  E. Speel,et al.  Molecular and cellular biology of neuroendocrine lung tumors: evidence for separate biological entities. , 2012, Biochimica et biophysica acta.

[49]  R. Thakker Multiple endocrine neoplasia type 1 , 2012, Indian journal of endocrinology and metabolism.

[50]  P. Mazzaglia Hereditary pheochromocytoma and paraganglioma , 2012, Journal of surgical oncology.

[51]  J. Bilezikian,et al.  Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). , 2012, The Journal of clinical endocrinology and metabolism.

[52]  T. Fojo,et al.  Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. , 2012, The New England journal of medicine.

[53]  R. Sanz,et al.  Neuroendocrine Tumor of the Pancreas in a Patient With Tuberous Sclerosis , 2012, International journal of surgical pathology.

[54]  Y. Kawabata,et al.  A case of pancreatic neuroendocrine tumor in a patient with neurofibromatosis-1 , 2012, World Journal of Surgical Oncology.

[55]  Mercedes Robledo,et al.  MAX and MYC: a heritable breakup. , 2012, Cancer research.

[56]  Laura H. Tang,et al.  Small Cell and Large Cell Neuroendocrine Carcinomas of the Pancreas are Genetically Similar and Distinct From Well-differentiated Pancreatic Neuroendocrine Tumors , 2012, The American journal of surgical pathology.

[57]  E. Baudin,et al.  Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[58]  I. Tomlinson,et al.  SDH mutations in cancer. , 2011, Biochimica et biophysica acta.

[59]  R. McLendon,et al.  Altered Telomeres in Tumors with ATRX and DAXX Mutations , 2011, Science.

[60]  R. Thakker,et al.  Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice. , 2011, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

[61]  M. Brandi,et al.  Pancreatic endocrine tumors in multiple endocrine neoplasia type 1 syndrome: review of literature. , 2011, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

[62]  A. Tabarin,et al.  Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'etude des Tumeurs Endocrines. , 2011, European journal of endocrinology.

[63]  S. Richard,et al.  von Hippel–Lindau disease: A clinical and scientific review , 2011, European Journal of Human Genetics.

[64]  Michael A. Choti,et al.  DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors , 2011, Science.

[65]  T. Sjöblom,et al.  Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors , 2011, Genes, chromosomes & cancer.

[66]  P. Bénit,et al.  SDHA is a tumor suppressor gene causing paraganglioma. , 2010, Human molecular genetics.

[67]  Herb Chen,et al.  The North American Neuroendocrine Tumor Society Consensus Guideline for the Diagnosis and Management of Neuroendocrine Tumors: Pheochromocytoma, Paraganglioma, and Medullary Thyroid Cancer , 2010, Pancreas.

[68]  D. Winge,et al.  Succinate dehydrogenase - Assembly, regulation and role in human disease. , 2010, Mitochondrion.

[69]  W. Dinjens,et al.  Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. , 2010, The Journal of clinical endocrinology and metabolism.

[70]  C. Croce,et al.  Pancreatic endocrine tumors: expression profiling evidences a role for AKT-mTOR pathway. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[71]  C. Prinz,et al.  VHL inactivation is an important pathway for the development of malignant sporadic pancreatic endocrine tumors. , 2009, Endocrine-related cancer.

[72]  O. Nilsson,et al.  High-resolution genomic profiling reveals gain of chromosome 14 as a predictor of poor outcome in ileal carcinoids. , 2009, Endocrine-related cancer.

[73]  J. Carney,et al.  The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney–Stratakis syndrome): molecular genetics and clinical implications , 2009, Journal of internal medicine.

[74]  S. Marx,et al.  Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. , 2009, The Journal of clinical endocrinology and metabolism.

[75]  R. B. van der Luijt,et al.  Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcome , 2009, Clinical endocrinology.

[76]  D. Berney,et al.  Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours. , 2009, Endocrine-related cancer.

[77]  A. Grossman,et al.  Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review. , 2008, Endocrine-related cancer.

[78]  K. Pavelić,et al.  Analysis of Selected Genes in Neuroendocrine Tumours: Insulinomas and Phaeochromocytomas , 2008, Journal of neuroendocrinology.

[79]  Derek Y. Chiang,et al.  High‐resolution analysis of genetic alterations in small bowel carcinoid tumors reveals areas of recurrent amplification and loss , 2008, Genes, chromosomes & cancer.

[80]  M. Caplin,et al.  Molecular Genetics of Gastroenteropancreatic Neuroendocrine Tumors , 2008, The American Journal of Gastroenterology.

[81]  A. Pinchera,et al.  Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. , 2008, The Journal of clinical endocrinology and metabolism.

[82]  R. Thakker,et al.  Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene , 2008, Human mutation.

[83]  J. Norton,et al.  Role of surgery in Zollinger-Ellison syndrome. , 2007, Journal of the American College of Surgeons.

[84]  E. Baudin,et al.  Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. , 2007, The Journal of clinical endocrinology and metabolism.

[85]  R. Ferner Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective , 2007, The Lancet Neurology.

[86]  M. Ichihara,et al.  RET and neuroendocrine tumors , 2006, Pituitary.

[87]  H. Timmers,et al.  Mechanisms of Disease: multiple endocrine neoplasia type 1—relation to chromatin modifications and transcription regulation , 2006, Nature Clinical Practice Endocrinology &Metabolism.

[88]  S. Plon,et al.  Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response. , 2006, Cancer research.

[89]  E. Maher,et al.  Von Hippel-Lindau disease and endocrine tumour susceptibility. , 2006, Endocrine-related cancer.

[90]  I. Modlin,et al.  The molecular genetics of gastroenteropancreatic neuroendocrine tumors , 2005, Cancer.

[91]  J. Burgess,et al.  Bronchopulmonary carcinoid in multiple endocrine neoplasia type 1 , 2005, Cancer.

[92]  P. Rustin,et al.  Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. , 2003, Cancer research.

[93]  C. Béroud,et al.  Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein , 2002, Human mutation.

[94]  John P. Bilezikian,et al.  CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2 , 2001 .

[95]  W. Linehan,et al.  Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. , 1999, The New England journal of medicine.

[96]  Y Wang,et al.  Positional cloning of the gene for multiple endocrine neoplasia-type 1. , 1997, Science.

[97]  J. Polak,et al.  Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger-Ellison syndrome. , 1990, The New England journal of medicine.

[98]  T. Zelinka,et al.  HIF signaling pathway in pheochromocytoma and other neuroendocrine tumors. , 2014, Physiological research.

[99]  A. Agaimy,et al.  Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations. , 2012, International journal of clinical and experimental pathology.

[100]  F. Raue,et al.  Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management , 2009, Hormones.