A novel ESR2 frameshift mutation predisposes to medullary thyroid carcinoma and causes inappropriate RET expression

被引:0
|
作者
Read, M. [1 ]
Smith, J. [1 ]
Smith, V. [1 ]
Morgan, N. [2 ]
Wake, N. [1 ]
Watkinson, J. [3 ]
Wallis, Y. [4 ]
Maher, E. [5 ]
McCabe, C. [1 ]
Woodward, E. [6 ]
机构
[1] Univ Birmingham, Inst Metab & Syst Res, Birmingham, W Midlands, England
[2] Univ Birmingham, Inst Cardiovasc Sci, Birmingham, W Midlands, England
[3] Queen Elizabeth Hosp, Univ Hosp Birmingham Natl Hlth Serv Fdn Trust, Birmingham, W Midlands, England
[4] Birmingham Womens Hosp, West Midlands Reg Genet Lab, Birmingham, W Midlands, England
[5] Univ Cambridge, Dept Med Genet, Cambridge, England
[6] St Marys Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England
关键词
D O I
10.1016/S0959-8049(16)61059-6
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
141
引用
收藏
页码:S20 / S20
页数:1
相关论文
共 50 条
  • [41] Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma
    Silva, A. L.
    Carmo, F.
    Moura, M. M.
    Domingues, R.
    Espadinha, C.
    Leite, V.
    Cavaco, B.
    Bugalho, M. J.
    ENDOCRINE, 2015, 49 (02) : 366 - 372
  • [42] A natural alkaloid, berberine, as a novel transcriptional repressor of RET protooncogene in medullary thyroid carcinoma
    Sun, Daekyu
    Kumarasamy, Vishnu
    CANCER RESEARCH, 2015, 75
  • [43] A novel deletion in the RET proto-oncogene found in sporadic medullary thyroid carcinoma
    Alemi, M
    Lucas, SD
    Sallstrom, JF
    Akerstrom, G
    Wilander, E
    ANTICANCER RESEARCH, 1996, 16 (5A) : 2619 - 2622
  • [44] In vivo and in vitro characterization of a novel germline RET mutation associated with low-penetrant nonaggressive familial medullary thyroid carcinoma
    D'Aloiso, L
    Carlomagno, F
    Bisceglia, M
    Anaganti, S
    Ferretti, E
    Verrienti, A
    Arturi, F
    Scarpelli, D
    Russo, D
    Santoro, M
    Filetti, S
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (03): : 754 - 759
  • [45] Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma
    A. L. Silva
    F. Carmo
    M. M. Moura
    R. Domingues
    C. Espadinha
    V. Leite
    B. Cavaco
    M. J. Bugalho
    Endocrine, 2015, 49 : 366 - 372
  • [46] Upregulation of the ESR1 Gene and ESR Ratio (ESR1/ESR2) is Associated with a Worse Prognosis in Papillary Thyroid Carcinoma: The Impact of the Estrogen Receptor α/β Expression on Clinical Outcomes in Papillary Thyroid Carcinoma Patients
    Yi, Jin Wook
    Kim, Su-jin
    Kim, Jong Kyu
    Seong, Chan Yong
    Yu, Hyeong Won
    Chai, Young Jun
    Choi, June Young
    Lee, Kyu Eun
    ANNALS OF SURGICAL ONCOLOGY, 2017, 24 (12) : 3754 - 3762
  • [47] Upregulation of the ESR1 Gene and ESR Ratio (ESR1/ESR2) is Associated with a Worse Prognosis in Papillary Thyroid Carcinoma: The Impact of the Estrogen Receptor α/β Expression on Clinical Outcomes in Papillary Thyroid Carcinoma Patients
    Jin Wook Yi
    Su-jin Kim
    Jong Kyu Kim
    Chan Yong Seong
    Hyeong Won Yu
    Young Jun Chai
    June Young Choi
    Kyu Eun Lee
    Annals of Surgical Oncology, 2017, 24 : 3754 - 3762
  • [48] Expression of the Grb2-related RET adapter protein Grap-2 in human medullary thyroid carcinoma
    Ludwig, Leopold
    Oswald, Franz
    Hoang-Vu, Cuong
    Dralle, Henning
    Hildt, Eberhard
    Schmid, Roland M.
    Karges, Wolfram
    CANCER LETTERS, 2009, 275 (02) : 194 - 197
  • [49] A new inherited RET protooncogene mutation associated with familial medullary thyroid carcinoma and polymorphisms in the adjacent regions
    Kalinin, BN
    Amosenko, FA
    Pushkash, K
    Frilling, A
    Brel'sh, KE
    GENETIKA, 1998, 34 (08): : 1157 - 1159
  • [50] Occurrence of sporadic medullary thyroid carcinoma in Graves' disease in association with a RET proto-oncogene mutation
    Donckier, Julian E.
    Fervaille, Caroline
    Bertrand, Claude
    ACTA CLINICA BELGICA, 2022, 77 (03) : 596 - 599