Identification of somatic TERT promoter mutations in familial nonmedullary thyroid carcinomas.
作者： Inês J. Marques , Margarida M. Moura , Rafael Cabrera , António E. Pinto , Joana Simões-Pereira
DOI: 10.1111/CEN.13375
关键词: Gene 、 EIF1AX 、 Promoter 、 Proband 、 Biology 、 Somatic cell 、 Thyroid 、 Thyroid carcinoma 、 Germline 、 Molecular biology 、 Cancer research
摘要: Objective The genes causing Familial Non-Medullary Thyroid Carcinoma (FNMTC) identified to date are only involved in a small fraction of the families. Recently, somatic mutations TERT promoter region and EIF1AX gene were reported thyroid tumours undefined familial status. The aim present study was investigate role tumours. Design The sequenced leukocyte DNA probands from 75 FNMTC In 54 cases, we assessed promoter, RAS BRAF hotspot mutations, whole gene. Results No potentially pathogenic germline variants families’ probands. carcinomas, five cases (9%) with mutations. found 41% tumours. All positive samples also for p.Val600Glu this co-occurrence be statistically significant (P=0.008). detected four wild-type (7%). Evaluation tumour mutation data together patients’ clinicopathological features revealed correlation between plus advanced stage (T4) (P=0.020). No EIF1AX. Conclusions The results suggest that not frequently aetiology. However, show first time alterations associated progression. Our more often concomitance stages FNMTC. This article is protected by copyright. rights reserved.
sci-hub.se 参考文章(38)
Andreas Hillenbrand, Jan-Erik Varhaug, Michael Brauckhoff, Rumen Pandev, Sabine Haufe, Cornelia Dotzenrath, Roswitha Köberle, Rainer Hoffmann, Günther Klein, Martina Kadmon, Thomas Negele, Tatjana Hagieva, Doris Henne-Bruns, Markus Luster, Theresia Weber, Familial nonmedullary thyroid carcinoma-clinical relevance and prognosis. A European multicenter study. ESES Vienna presentation. Langenbeck's Archives of Surgery. ,vol. 395, pp. 851- 858 ,(2010) , 10.1007/S00423-010-0696-0
Thomas Rio Frio, Amin Bahubeshi, Chryssa Kanellopoulou, Nancy Hamel, Marek Niedziela, Nelly Sabbaghian, Carly Pouchet, Lucy Gilbert, Paul K O’Brien, Kim Serfas, Peter Broderick, Richard S Houlston, Fabienne Lesueur, Elena Bonora, Stefan Muljo, R Neil Schimke, Dorothée Bouron-Dal Soglio, Jocelyne Arseneau, Kris Ann Schultz, John R Priest, Van-Hung Nguyen, H Rubén Harach, David M Livingston, William D Foulkes, Marc Tischkowitz, DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors JAMA. ,vol. 305, pp. 68- 77 ,(2011) , 10.1001/JAMA.2010.1910
Nishant Agrawal, Rehan Akbani, B Arman Aksoy, Adrian Ally, Harindra Arachchi, Sylvia L Asa, J Todd Auman, Miruna Balasundaram, Saianand Balu, Stephen B Baylin, Madhusmita Behera, Brady Bernard, Rameen Beroukhim, Justin A Bishop, Aaron D Black, Tom Bodenheimer, Lori Boice, Moiz S Bootwalla, Jay Bowen, Reanne Bowlby, Christopher A Bristow, Robin Brookens, Denise Brooks, Robert Bryant, Elizabeth Buda, Yaron SN Butterfield, Tobias Carling, Rebecca Carlsen, Scott L Carter, Sally E Carty, Timothy A Chan, Amy Y Chen, Andrew D Cherniack, Dorothy Cheung, Lynda Chin, Juok Cho, Andy Chu, Eric Chuah, Kristian Cibulskis, Giovanni Ciriello, Amanda Clarke, Gary L Clayman, Leslie Cope, John A Copland, Kyle Covington, Ludmila Danilova, Tanja Davidsen, John A Demchok, Daniel DiCara, Noreen Dhalla, Rajiv Dhir, Sheliann S Dookran, Gideon Dresdner, Jonathan Eldridge, Greg Eley, Adel K El-Naggar, Stephanie Eng, James A Fagin, Timothy Fennell, Robert L Ferris, Sheila Fisher, Scott Frazer, Jessica Frick, Stacey B Gabriel, Ian Ganly, Jianjiong Gao, Levi A Garraway, Julie M Gastier-Foster, Gad Getz, Nils Gehlenborg, Ronald Ghossein, Richard A Gibbs, Thomas J Giordano, Karen Gomez-Hernandez, Jonna Grimsby, Benjamin Gross, Ranabir Guin, Angela Hadjipanayis, Hollie A Harper, D Neil Hayes, David I Heiman, James G Herman, Katherine A Hoadley, Matan Hofree, Robert A Holt, Alan P Hoyle, Franklin W Huang, Mei Huang, Carolyn M Hutter, Trey Ideker, Lisa Iype, Anders Jacobsen, Stuart R Jefferys, Corbin D Jones, Steven JM Jones, Katayoon Kasaian, Electron Kebebew, Fadlo R Khuri, Jaegil Kim, Roger Kramer, Richard Kreisberg, Raju Kucherlapati, David J Kwiatkowski, Marc Ladanyi, Phillip H Lai, Peter W Laird, Eric Lander, Michael S Lawrence, Darlene Lee, Eunjung Lee, Semin Lee, William Lee, Kristen M Leraas, Tara M Lichtenberg, Lee Lichtenstein, Pei Lin, Shiyun Ling, Jinze Liu, Wenbin Liu, Yingchun Liu, Virginia A LiVolsi, Yiling Lu, Yussanne Ma, Harshad S Mahadeshwar, Marco A Marra, Michael Mayo, David G McFadden, Shaowu Meng, Matthew Meyerson, Piotr A Mieczkowski, Michael Miller, Gordon Mills, Richard A Moore, Lisle E Mose, Andrew J Mungall, Bradley A Murray, Yuri E Nikiforov, Michael S Noble, Akinyemi I Ojesina, Taofeek K Owonikoko, Bradley A Ozenberger, Angeliki Pantazi, Michael Parfenov, Peter J Park, Joel S Parker, Evan O Paull, Chandra Sekhar Pedamallu, Charles M Perou, Jan F Prins, Alexei Protopopov, None, Integrated Genomic Characterization of Papillary Thyroid Carcinoma Cell. ,vol. 159, pp. 676- 690 ,(2014) , 10.1016/J.CELL.2014.09.050
Jonathan R. George, Ying C. Henderson, Michelle D. Williams, Dianna B. Roberts, Hu Hei, Stephen Y. Lai, Gary L. Clayman, Association of TERT Promoter Mutation, But Not BRAF Mutation, With Increased Mortality in PTC The Journal of Clinical Endocrinology and Metabolism. ,vol. 100, ,(2015) , 10.1210/JC.2015-2690
Y. Cong, The Human Telomerase Catalytic Subunit hTERT: Organization of the Gene and Characterization of the Promoter Human Molecular Genetics. ,vol. 8, pp. 137- 142 ,(1999) , 10.1093/HMG/8.1.137
Emilie Gadea, Emilie Thivat, Rodolphe Paulon, Florence Mishellany, Pierre Gimbergues, Frédéric Capel, Laurent Mosoni, Charles Merlin, Marc Lombès, Béatrice Morio, Xavier Durando, Hibernoma: a clinical model for exploring the role of brown adipose tissue in the regulation of body weight? The Journal of Clinical Endocrinology and Metabolism. ,vol. 99, pp. 1- 6 ,(2014) , 10.1210/JC.2013-2829
Vítor Trovisco, Paula Soares, Ricardo Soares, João Magalhães, Pedro Sá-Couto, Manuel Sobrinho-Simões, None, A new BRAF gene mutation detected in a case of a solid variant of papillary thyroid carcinoma. Human Pathology. ,vol. 36, pp. 694- 697 ,(2005) , 10.1016/J.HUMPATH.2005.04.011
Jaroslaw Jendrzejewski, Jerneja Tomsic, Gerard Lozanski, Jadwiga Labanowska, Huiling He, Sandya Liyanarachchi, Rebecca Nagy, Matthew D. Ringel, Richard T. Kloos, Nyla A. Heerema, Albert de la Chapelle, Telomere Length and Telomerase Reverse Transcriptase Gene Copy Number in Patients with Papillary Thyroid Carcinoma The Journal of Clinical Endocrinology & Metabolism. ,vol. 96, pp. E1876- E1880 ,(2011) , 10.1210/JC.2011-1643
D. Sukumar, N. C. Partridge, X. Wang, S. A. Shapses, The High Serum Monocyte Chemoattractant Protein-1 in Obesity Is Influenced by High Parathyroid Hormone and Not Adiposity The Journal of Clinical Endocrinology and Metabolism. ,vol. 96, pp. 1852- 1858 ,(2011) , 10.1210/JC.2010-2781
S. Horn, A. Figl, P. S. Rachakonda, C. Fischer, A. Sucker, A. Gast, S. Kadel, I. Moll, E. Nagore, K. Hemminki, D. Schadendorf, R. Kumar, TERT Promoter Mutations in Familial and Sporadic Melanoma Science. ,vol. 339, pp. 959- 961 ,(2013) , 10.1126/SCIENCE.1230062