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
  • [21] Influence of RET mutations on the expression of tyrosine kinases in medullary thyroid carcinoma
    Rodriguez-Antona, Cristina
    Munoz-Repeto, Ivan
    Inglada-Perez, Lucia
    de Cubas, Aguirre A.
    Mancikova, Veronika
    Canamero, Marta
    Maliszewska, Agnieszka
    Gomez, Alvaro
    Leton, Rocio
    Leandro-Garcia, Luis J.
    Comino-Mendez, Inaki
    Sanchez, Lara
    Alvarez-Escola, Cristina
    Aller, Javier
    Cascon, Alberto
    Robledo, Mercedes
    ENDOCRINE-RELATED CANCER, 2013, 20 (04) : 611 - 619
  • [22] Chinese siblings with hereditary medullary thyroid carcinoma caused by RET mutation: implications for RET oncogene detection
    Qin Huang
    Aihua Hu
    Mingsheng Zhang
    BMC Endocrine Disorders, 20
  • [23] Chinese siblings with hereditary medullary thyroid carcinoma caused by RET mutation: implications for RET oncogene detection
    Huang, Qin
    Hu, Aihua
    Zhang, Mingsheng
    BMC ENDOCRINE DISORDERS, 2020, 20 (01)
  • [24] MEN 2A with double mutation in RET gene: Ectopic ACTH production in medullary thyroid carcinoma
    Ares, Jessica
    Diaz-Naya, Lucia
    Martin-Nieto, Alicia
    Pertierra, Joaquin
    MEDICINA CLINICA, 2016, 146 (09): : 419 - 420
  • [25] No correlation between RET immunostaining and the codon 918 mutation in sporadic medullary thyroid carcinoma
    Bockhorn, M
    Frilling, A
    Kalinin, V
    Schröder, S
    Broelsch, CE
    LANGENBECKS ARCHIVES OF SURGERY, 1999, 384 (01) : 60 - 64
  • [26] RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma
    Qi, Xiao-Ping
    Jin, Bai-Ye
    Li, Peng-Fei
    Wang, Sheng
    Zhao, Yi-Hua
    Cao, Zhi-Lie
    Yu, Xiu-Hua
    Cheng, Jun
    Fang, Xu-Dong
    Zhao, Jian-Qiang
    THYROID, 2019, 29 (10) : 1447 - 1456
  • [27] RET proto-oncogene mutation in a mixed medullary-follicular thyroid carcinoma
    Orlandi, F
    Chiefari, E
    Caraci, P
    Mussa, A
    Gonzatto, I
    De Giuli, P
    Giuffrida, D
    Angeli, A
    Filetti, S
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2001, 24 (01) : 51 - 55
  • [28] Five families with RET-mutation negative familial medullary thyroid carcinoma: what lies beyond RET?
    Iacovazzo, D.
    Sampson, J. R.
    Morrison, P. J.
    Foulkes, W.
    Alevizaki, M.
    Lugli, F.
    Gabrovska, P.
    Lucci-Cordisco, E.
    De Marinis, L.
    Korbonits, M.
    WIENER KLINISCHE WOCHENSCHRIFT, 2014, 126 : S141 - S142
  • [29] Mutation of the RET proto-oncogene is correlated with RET immunostaining in subpopulations of cells in sporadic medullary thyroid carcinoma
    Eng, C
    Thomas, GA
    Neuberg, DS
    Mulligan, LM
    Healey, CS
    Houghton, C
    Frilling, A
    Raue, F
    Williams, ED
    Ponder, BAJ
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (12): : 4310 - 4313
  • [30] No correlation between RET immunostaining and the codon 918 mutation in sporadic medullary thyroid carcinoma
    M. Bockhorn
    A. Frilling
    V. Kalinin
    S. Schröder
    C. E. Broelsch
    Langenbeck's Archives of Surgery, 1999, 384 : 60 - 64