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

来源：

EUROPEAN JOURNAL OF CANCER | 2016年 / 61卷

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

页码：S20 / S20

页数：1

共 50 条

[1] Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression
Smith, Joel
Read, Martin L.
Hoffman, Jon
Brown, Rachel
Bradshaw, Beth
Campbell, Christopher
Cole, Trevor
Navas, Johanna Dieguez
Eatock, Fiona
Gundara, Justin S.
Lian, Eric
Mcmullan, Dom
Morgan, Neil V.
Mulligan, Lois
Morrison, Patrick J.
Robledo, Mercedes
Simpson, Michael A.
Smith, Vicki E.
Stewart, Sue
Trembath, Richard C.
Sidhu, Stan
Togneri, Fiona S.
Wake, Naomi C.
Wallis, Yvonne
Watkinson, John C.
Maher, Eamonn R.
McCabe, Christopher J.
Woodward, Emma R.
HUMAN MOLECULAR GENETICS, 2016, 25 (09) : 1836 - 1845
[2] ESR2 Gene and Medullary Thyroid Carcinoma
Ruiz-Ferrer, Macarena
Fernandez, Raquel M.
Navarro, Elena
Antinolo, Guillermo
Borrego, Salud
THYROID, 2017, 27 (11) : 1456 - 1457
[3] Medullary thyroid carcinoma in a child with a new RET mutation and a RET polymorphism
Vandenbosch, K
Renard, M
Uyttebroeck, A
Sciot, R
Matthijs, G
Legius, E
GENETIC COUNSELING, 2005, 16 (01): : 95 - 100
[4] RET mutation screening in MEN2 patients and discovery of a novel mutation in a sporadic medullary thyroid carcinoma
Jhiang, SM
Fithian, L
Weghorst, CM
Clark, OH
Falko, JM
ODorisio, TM
Mazzaferri, EL
THYROID, 1996, 6 (02) : 115 - 121
[5] A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma
Hofstra, RMW
Fattoruso, O
Quadro, L
Wu, Y
Libroia, A
Verga, U
Colantuoni, V
Buys, CHCM
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (12): : 4176 - 4178
[6] MUTATION OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA
ENG, C
MULLIGAN, LM
SMITH, DP
HEALEY, CS
FRILLING, A
RAUE, F
NEUMANN, HPH
PFRAGNER, R
BEHMEL, A
LORENZO, MJ
STONEHOUSE, TJ
PONDER, MA
PONDER, BAJ
GENES CHROMOSOMES & CANCER, 1995, 12 (03): : 209 - 212
[7] RET Fusion as a Novel Driver of Medullary Thyroid Carcinoma
Grubbs, Elizabeth G.
Ng, Patrick Kwok-Shing
Bui, Jacquelin
Busaidy, Naifa L.
Chen, Ken
Lee, Jeffrey E.
Lu, Xinyan
Lu, Hengyu
Meric-Bernstam, Funda
Mills, Gordon B.
Palmer, Gary
Perrier, Nancy D.
Scott, Kenneth L.
Shaw, Kenna R.
Waguespack, Steven G.
Williams, Michelle D.
Yelensky, Roman
Cote, Gilbert J.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2015, 100 (03): : 788 - 793
[8] Identification of a novel somatic mutation in the RET proto oncogene in a patient with sporadic medullary thyroid carcinoma
MatiasGuiu, X
Lagarda, E
Calaf, M
Azpiroz, A
DeLeiva, A
Prat, J
Baiget, M
HUMAN MUTATION, 1997, 9 (05) : 476 - 476
[9] Is somatic RET mutation a prognostic factor for sporadic medullary thyroid carcinoma?
Jan Zedenius
Nature Clinical Practice Endocrinology & Metabolism, 2008, 4 : 432 - 433
[10] Is somatic RET mutation a prognostic factor for sporadic medullary thyroid carcinoma?
Zedenius, Jan
NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM, 2008, 4 (08): : 432 - 433

← 1 2 3 4 5 →