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