Molecular pathogenesis of parathyroid tumours
Tài liệu tham khảo
Bilezikian, 2018, Hyperparathyroidism, Lancet, 391, 168, 10.1016/S0140-6736(17)31430-7
Thakker, 2010, Multiple endocrine neoplasia type 1 (MEN1), Best Pract Res Clin Endocrinol Metabol, 3, 355, 10.1016/j.beem.2010.07.003
Brandi, 2001, Guidelines for diagnosis and therapy of MEN type 1 and type 2, J Clin Endocrinol Metabol, 12, 5658, 10.1210/jcem.86.12.8070
Scarpelli, 2004, Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics, J Endocrinol Invest, 11, 1015, 10.1007/BF03345303
Benson, 1987, Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1, Am J Med, 4, 731, 10.1016/0002-9343(87)90008-8
Burgess, 1998, Expression of the MEN-1 gene in a large kindred with multiple endocrine neoplasia type 1, J Intern Med, 6, 465, 10.1046/j.1365-2796.1998.00275.x
Cardoso, 2017, Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma, Hum Mutat, 12, 1621, 10.1002/humu.23337
Singh Ospina, 2016, Prevalence of 6 parathyroid carcinoma in 348 patients with multiple endocrine neoplasia type 1 – case reportand review of the literature, Clin Endocrinol, 2, 244, 10.1111/cen.12714
Christakis, 2016, Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature, Int J Surg, 31, 10, 10.1016/j.ijsu.2016.05.035
Cinque, 2017, Novel association of MEN1 gene mutations with parathyroid carcinoma, Oncol Lett, 1, 23, 10.3892/ol.2017.6162
Chandrasekharappa, 1997, Positional cloning of the gene for multiple endocrine neoplasia-type 1, Science, 5311, 404, 10.1126/science.276.5311.404
Canaff, 2012, Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA, J Clin Endocrinol Metabol, 2, E282, 10.1210/jc.2011-0241
Thevenon, 2013, Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study, Hum Mol Genet, 10, 1940, 10.1093/hmg/ddt039
La, 2006, Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression, Oncogene, 25, 3537, 10.1038/sj.onc.1209400
Hughes, 2004, Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus, Mol Cell, 4, 587, 10.1016/S1097-2765(04)00081-4
Karnik, 2005, Menin regulates pancreatic islet growth by promoting histone methylation and expression of genes encoding p27Kip1 and p18INK4c, Proc Natl Acad Sci U S A, 41, 14659, 10.1073/pnas.0503484102
Milne, 2005, Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors, Proc Natl Acad Sci U S A, 3, 749, 10.1073/pnas.0408836102
Feng, 2017, Epigenetic regulation by the menin pathway, Endocr Relat Cancer, 10, T147, 10.1530/ERC-17-0298
Feng, 2017, Menin and Daxx interact to suppress neuroendocrine tumors through epigenetic control of the membrane metallo-endopeptidase, Cancer Res, 2, 401, 10.1158/0008-5472.CAN-16-1567
Gurung, 2013, Menin directly represses Gli1 expression independent of canonical Hedgehog signaling, Mol Cancer Res, 10, 1215, 10.1158/1541-7786.MCR-13-0170
Gurung, 2013, Menin epigenetically represses Hedgehog signaling in MEN1 tumor syndrome, Cancer Res, 8, 2650, 10.1158/0008-5472.CAN-12-3158
Heppner, 2001, The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation, Oncogene, 36, 4917, 10.1038/sj.onc.1204529
Kaji, 2001, Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling, Proc Natl Acad Sci U S A, 7, 3837, 10.1073/pnas.061358098
Sowa, 2004, Menin is required for bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation through interaction with Smads and Runx2, J Biol Chem, 39, 40267, 10.1074/jbc.M401312200
Busygina, 2006, Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response, Cancer Res, 17, 8397, 10.1158/0008-5472.CAN-06-0061
Wu, 2017, Menin enhances c-Myc-mediated transcription to promote cancer progression, Nat Commun, 8, 15278, 10.1038/ncomms15278
Kim, 2003, Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex, Cancer Res, 19, 6135
Sukhodolets, 2003, The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene, Mol Cell Biol, 2, 493, 10.1128/MCB.23.2.493-509.2003
Jin, 2003, Menin associates with FANCD2, a protein involved in repair of DNA damage, Cancer Res, 14, 4204
Schnepp, 2004, Functional interaction between tumor suppressor menin and activator of S-phase kinase, Cancer Res, 18, 6791, 10.1158/0008-5472.CAN-04-0724
Zablewska, 2003, Transcription regulation of the multiple endocrine neoplasia type 1 gene in human and mouse, J Clin Endocrinol Metabol, 8, 3845, 10.1210/jc.2003-030288
Canaff, 2012, Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1), J Biol Chem, 11, 8584, 10.1074/jbc.M112.341958
Chen, 2008, Menin promotes the Wnt signaling pathway in pancreatic endocrine cells, Mol Cancer Res, 12, 1894, 10.1158/1541-7786.MCR-07-2206
Zhang, 2012, Glucose-mediated repression of menin promotes pancreatic β-cell proliferation, Endocrinology, 2, 602, 10.1210/en.2011-1460
Vijayaraghavan, 2014, miR-24 regulates menin in the endocrine pancreas, Am J Physiol Endocrinol Metabol, 1, E84, 10.1152/ajpendo.00542.2013
MacConaill, 2006, Phosphorylation of the menin tumor suppressor protein on serine 543 and serine 583, Mol Cancer Res, 10, 793, 10.1158/1541-7786.MCR-06-0123
Francis, 2011, The menin tumor suppressor protein is phosphorylated in response to DNA damage, PloS One, 1
Chen, 2003, Hyperparathyroidism-jaw tumour syndrome, J Intern Med, 253, 634, 10.1046/j.1365-2796.2003.01168.x
Bradley, 2005, Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome, J Intern Med, 257, 18, 10.1111/j.1365-2796.2004.01421.x
Carpten, 2002, HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome, Nat Genet, 32, 676, 10.1038/ng1048
Shattuck, 2003, Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma, N Engl J Med, 349, 1722, 10.1056/NEJMoa031237
DeLellis, 2018, Heritable forms of primary hyperparathyroidism: a current perspective, Histopathology, 72, 117, 10.1111/his.13306
Marx, 2017, Familial hyperparathyroidism - disorders of growth and secretion in hormone-secretory tissue, Horm Metab Res, 11, 805
Newey, 2010, Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors, Hum Mutat, 3, 295, 10.1002/humu.21188
Cascón, 2011, Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family, Genes Chromosomes Cancer, 50, 922, 10.1002/gcc.20911
Domingues, 2012, Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism, Clin Endocrinol, 76, 33, 10.1111/j.1365-2265.2011.04184.x
Bricaire, 2013, Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism, J Clin Endocrinol Metabol, 98, E403, 10.1210/jc.2012-2789
Korpi-Hyövälti, 2014, CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma, J Clin Endocrinol Metabol, 99, 3044, 10.1210/jc.2014-1481
Kong, 2014, Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese, Clin Endocrinol, 81, 222, 10.1111/cen.12461
Mehta, 2014, Hyperparathyroidism-jaw tumor syndrome: results of operative management, Surgery, 6, 1315, 10.1016/j.surg.2014.08.004
Davidson, 2016, Parathyroid cancer in the pediatric patient, J Pediatr Hematol Oncol, 38, 32, 10.1097/MPH.0000000000000443
Guarnieri, 2017, Erratum to: large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family, BMC Med Genet, 18, 99, 10.1186/s12881-017-0459-7
Rubinstein, 2017, Hyperparathyroidism-jaw tumor syndrome associated with large-scale 1q31 deletion, J Endocr Soc, 1, 926, 10.1210/js.2016-1089
Mamedova, 2017, Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome, Endocr Connect, 6, 557, 10.1530/EC-17-0126
Muscarella, 2017, Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion, Oncotarget, 29, 20721
Pazienza, 2013, Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene, PloS One, 8, 10.1371/journal.pone.0082292
Masi, 2014, Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization, PloS One, 9, 10.1371/journal.pone.0097994
Hewitt, 2007, Aberrant methylation of the HRPT2 gene in parathyroid carcinoma, Ann Otol Rhinol Laryngol, 12, 928, 10.1177/000348940711601210
Rozenblatt-Rosen, 2005, The parafibromin tumor suppressor protein is part of a human Paf1 complex, Mol Cell Biol, 2, 612, 10.1128/MCB.25.2.612-620.2005
Zhu, 2005, The human PAF complex coordinates transcription with events downstream of RNA synthesis, Genes Dev, 19, 1668, 10.1101/gad.1292105
Newey, 2009, Parafibromin--functional insights, J Intern Med, 1, 84, 10.1111/j.1365-2796.2009.02107.x
Mosimann, 2006, Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo, Cell, 2, 327, 10.1016/j.cell.2006.01.053
Lin, 2008, The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-mycprotooncogene, Proc Natl Acad Sci U S A, 105, 17420, 10.1073/pnas.0710725105
Wang, 2008, Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice, Mol Cell Biol, 9, 2930, 10.1128/MCB.00654-07
Iwata, 2007, Parafibromin tumor suppressor enhances cell growth in the cells expressing SV40 large T antigen, Oncogene, 42, 6176, 10.1038/sj.onc.1210445
Hahn, 2007, Nucleolar localization of parafibromin is mediated by three nucleolar localization signals, FEBS Lett, 26, 5070, 10.1016/j.febslet.2007.09.050
Lin, 2007, Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function, Mol Cancer Res, 2, 183, 10.1158/1541-7786.MCR-06-0129
Gordon, 2006, Wnt signaling: multiple pathways, multiple receptors, and multiple transcription factors, J Biol Chem, 32, 22429, 10.1074/jbc.R600015200
Polakis, 2012, Wnt signaling in cancer, Cold Spring Harbor Perspect Biol, 5
Svedlund, 2010, Aberrant WNT/β-catenin signaling in parathyroid carcinoma, Mol Cancer, 9, 294, 10.1186/1476-4598-9-294
Mosimann, 2009, The role of Parafibromin/Hyrax as a nuclear Gli/Ci-interacting protein in Hedgehog target gene control, Mech Dev, 5–6, 394, 10.1016/j.mod.2009.02.002
Kikuchi, 2016, Dephosphorylated parafibromin is a transcriptional coactivator of the Wnt/Hedgehog/Notch pathways, Nat Commun, 7, 12887, 10.1038/ncomms12887
Günther, 2000, Genetic ablation of parathyroid glands reveals another source of parathyroid hormone, Nature, 406, 199, 10.1038/35018111
Tuerk, 2000, Protein stability and domain topology determine the transcriptional activity of the mammalian glial cells missing homolog, GCMb, J Biol Chem, 275, 4774, 10.1074/jbc.275.7.4774
Ding, 2001, Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB, J Clin Invest, 108, 1215, 10.1172/JCI200113180
Bowl, 2010, Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism, Hum Mol Genet, 19, 2028, 10.1093/hmg/ddq084
Kanemura, 1999, Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene, FEBS Lett, 442, 151, 10.1016/S0014-5793(98)01650-0
Ivins, 2005, Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1, Dev Biol, 285, 554, 10.1016/j.ydbio.2005.06.026
Garg, 2001, Tbx1, a Di George syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development, Dev Biol, 235, 62, 10.1006/dbio.2001.0283
Grigorieva, 2010, Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2, J Clin Invest, 120, 2144, 10.1172/JCI42021
Mizobuchi, 2009, Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells, J Bone Miner Res, 24, 1173, 10.1359/jbmr.090211
Canaff, 2009, Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism, Hum Mutat, 30, 85, 10.1002/humu.20827
Mirczuk, 2010, A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism, J Clin Endocrinol Metabol, 95, 3512, 10.1210/jc.2009-2532
Yi, 2012, Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism, Clin Endocrinol, 76, 625, 10.1111/j.1365-2265.2011.04256.x
Baumber, 2005, Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism, J Med Genet, 42, 443, 10.1136/jmg.2004.026898
Mitsui, 2014, Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations, J Clin Endocrinol Metabol, 99, E2421, 10.1210/jc.2014-2174
Doyle, 2012, A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism, J Pediatr Endocrinol Metabol, 25, 741, 10.1515/jpem-2012-0080
Akiyama, 1996, The gcm-motif: a novel DNA-binding motif conserved in Drosophila and mammals, Proc Natl Acad Sci U S A, 93, 14912, 10.1073/pnas.93.25.14912
Schreiber, 1997, The regulator of early gliogenesis glial cells missing is a transcription factor with a novel type of DNA-binding domain, Proc Natl Acad Sci U S A, 94, 4739, 10.1073/pnas.94.9.4739
Schreiber, 1998, Structural requirements for DNA binding of GCM proteins, Nucleic Acids Res, 26, 2337, 10.1093/nar/26.10.2337
Guan, 2016, GCM2-Activating mutations in familial isolated hyperparathyroidism, Am J Hum Genet, 99, 1034, 10.1016/j.ajhg.2016.08.018
Kebebew, 2004, GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism, Surgery, 136, 1261, 10.1016/j.surg.2004.06.056
Correa, 2002, Underexpression of Gcm2, a master regulatory gene of parathyroid gland development, in adenomas of primary hyperparathyroidism, Clin Endocrinol, 57, 501, 10.1046/j.1365-2265.2002.01627.x
Mannstadt, 2011, Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism, J Endocrinol, 210, 165, 10.1530/JOE-10-0247
D'Agruma, 2014, Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts, J Clin Endocrinol Metabol, 99, E2794, 10.1210/jc.2014-2857
Marchiori, 2017, Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene, Biomed Pharmacother, 92, 843, 10.1016/j.biopha.2017.05.028
Lee, 2013, Multiple endocrine neoplasia syndromes associated with mutation of p27, J Endocrinol Invest, 9, 781
Alrezk, 2017, MEN4 and CDKN1B mutations: the latest of the MEN syndromes, Endocr Relat Cancer, 10, T195, 10.1530/ERC-17-0243
Crona, 2015, Somatic mutations and genetic heterogeneity at the CDKN1B locus in small intestinal neuroendocrine tumors, Ann Surg Oncol, 22, S1428, 10.1245/s10434-014-4351-9
Morosetti, 1995, Alterations of the p27KIP1 gene in non-Hodgkin’s lymphomas and adult T-cell leukemia/lymphoma, Blood, 5, 1924, 10.1182/blood.V86.5.1924.bloodjournal8651924
Spirin, 1996, p27/Kip1 mutation found in breast cancer, Cancer Res, 10, 2400
Rodier, 2001, p27 cytoplasmic localization is regulated by phosphorylation on Ser10 and is not a prerequisite for its proteolysis, EMBO J, 23, 6672, 10.1093/emboj/20.23.6672
Pagano, 1995, Role of the ubiquitin-proteasome pathway in regulating abundance of the cyclin-dependent kinase inhibitor p27, Science, 5224, 682, 10.1126/science.7624798
Loda, 1997, Increased proteasome-dependent degradation of the cyclin-dependent kinase inhibitor p27 in aggressive colorectal carcinomas, Nat Med, 2, 231, 10.1038/nm0297-231
Levine, 1986, Tissue and gene specific hypomethylation of the human parathyroid hormone gene: association with parathyroid hormone gene expression in parathyroid glands, Endocrinology, 119, 1618, 10.1210/endo-119-4-1618
VanHouten, 2006, Hypercalcemia of malignancy due to ectopic transactivation of the parathyroid hormone gene, J Clin Endocrinol Metabol, 2, 580, 10.1210/jc.2005-2095
Hendy, 2009, Calcium-sensing receptor and associated diseases, Prog Mol Biol Transl Sci, 89, 31, 10.1016/S1877-1173(09)89003-0
Chikatsu, 2000, Cloning and characterization of two promoters for the human calcium-sensing receptor (CaSR) and changes of CaSR expression in parathyroid adenomas, J Biol Chem, 275, 7553, 10.1074/jbc.275.11.7553
Casalà, 2013, The calcium sensing receptor is silenced by genetic and epigenetic mechanisms in unfavorable neuroblastomas and its reactivation induces ERK1/2-dependent apoptosis, Carcinogenesis, 34, 268, 10.1093/carcin/bgs338
Hizaki, 2011, Epigenetic inactivation of calcium-sensing receptor in colorectal carcinogenesis, Mod Pathol, 24, 876, 10.1038/modpathol.2011.10
Sulaiman, 2013, Global and gene-specific promoter methylation analysis in primary hyperparathyroidism, Epigenetics, 8, 646, 10.4161/epi.24823
Svedlund, 2012, Hypermethylated in cancer 1 (HIC1), a tumor suppressor gene epigenetically deregulated in hyperparathyroid tumors by histone H3 lysine modification, J Clin Endocrinol Metabol, 97, E1307, 10.1210/jc.2011-3136
Juhlin, 2010, Frequent promoter hypermethylation of the APC and RASSF1A tumour suppressors in parathyroid tumours, PloS One, 5, e9472, 10.1371/journal.pone.0009472
Guarnieri, 2018, Alterations of DNA methylation in parathyroid tumors, Mol Cell Endocrinol, 469, 60, 10.1016/j.mce.2017.05.010
Cromer, 2012, Identification of somatic mutations in parathyroid tumors using whole-exome sequencing, J Clin Endocrinol Metabol, 97, E1774, 10.1210/jc.2012-1743
Sanpaolo, 2016, EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms, Endocrine, 54, 55, 10.1007/s12020-016-0892-y
Svedlund, 2014, The histone methyltransferase EZH2, an oncogene common to benign and malignant parathyroid tumors, Endocr Relat Cancer, 21, 231, 10.1530/ERC-13-0497
Carling, 2003, Intragenic allelic loss and promoter hypermethylation of the RIZ1 tumor suppressor gene in parathyroid tumors and pheochromocytomas, Surgery, 134, 932, 10.1016/S0039-6060(03)00422-7
Vaira, 2017, MicroRNAs in parathyroid physiopathology, Mol Cell Endocrinol, 456, 9, 10.1016/j.mce.2016.10.035
Vaira, 2012, The microRNA cluster C19MC is deregulated in parathyroid tumours, J Mol Endocrinol, 2, 115, 10.1530/JME-11-0189
Howe, 1993, Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up, Surgery, 6, 1070
Mulligan, 1993, Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A, Nature, 6428, 458, 10.1038/363458a0
Baloh, 2000, The GDNF family ligands and receptors - implications for neural development, Curr Opin Neurobiol, 1, 103, 10.1016/S0959-4388(99)00048-3
Raue, 2012, Genotype-phenotype correlation in multiple endocrine neoplasia type 2, Clinics (Sao Paulo), 67, 69, 10.6061/clinics/2012(Sup01)13
Björklund, 2008, Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients, Mol Cancer, 7, 53, 10.1186/1476-4598-7-53
Starker, 2012, Evidence of a stabilizing mutation of β-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas, Endocrine, 3, 612, 10.1007/s12020-012-9690-3
Costa-Guda, 2007, Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas, J Clin Endocrinol Metabol, 4, 1564, 10.1210/jc.2006-2554
Guarnieri, 2012, A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort, Endocrine, 1, 152, 10.1007/s12020-011-9558-y
Newey, 2012, Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas, J Clin Endocrinol Metabol, 10, E1995, 10.1210/jc.2012-2303
Kasaian, 2013, Complete genomic landscape of a recurring sporadic parathyroid carcinoma, J Pathol, 3, 249, 10.1002/path.4203
Yu, 2015, Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion, J Clin Endocrinol Metabol, 2, E360, 10.1210/jc.2014-3238
Pandya, 2017, Genomic profiling reveals mutational landscape in parathyroid carcinomas, J Clin Invest Insight, 6
Wei, 2018, Whole-exome sequencing identifies novel recurrent somatic mutations in sporadic parathyroid adenomas, Endocrinology, 8, 3061, 10.1210/en.2018-00246