ESR1 c.1627_1628delinsGC ;(p.M543A)

Variant ID: 6-152419940-AT-GC

NM_000125.3(ESR1):c.1627_1628delinsGC;(p.M543A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Acquired CYP19A1 amplification is an early specific mechanism of aromatase inhibitor resistance in ERĪ± metastatic breast cancer.

Nature Genetics
Magnani, Luca L; Frige, Gianmaria G; Gadaleta, Raffaella Maria RM; Corleone, Giacomo G; Fabris, Sonia S; Kempe, Mannus H MH; Verschure, Pernette J PJ; Barozzi, Iros I; Vircillo, Valentina V; Hong, Sung-Pil SP; Perone, Ylenia Y; Saini, Massimo M; Trumpp, Andreas A; Viale, Giuseppe G; Neri, Antonino A; Ali, Simak S; Colleoni, Marco Angelo MA; Pruneri, Giancarlo G; Minucci, Saverio S
Publication Date: 2017-03

Variant appearance in text: ESR1: Met543Ala
PubMed Link: 28112739
Variant Present in the following documents:
  • Main text
  • emss-70921.pdf
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: ESR1: M543A
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Activating ESR1 mutations in hormone-resistant metastatic breast cancer.

Nature Genetics
Robinson, Dan R DR; Wu, Yi-Mi YM; Vats, Pankaj P; Su, Fengyun F; Lonigro, Robert J RJ; Cao, Xuhong X; Kalyana-Sundaram, Shanker S; Wang, Rui R; Ning, Yu Y; Hodges, Lynda L; Gursky, Amy A; Siddiqui, Javed J; Tomlins, Scott A SA; Roychowdhury, Sameek S; Pienta, Kenneth J KJ; Kim, Scott Y SY; Roberts, J Scott JS; Rae, James M JM; Van Poznak, Catherine H CH; Hayes, Daniel F DF; Chugh, Rashmi R; Kunju, Lakshmi P LP; Talpaz, Moshe M; Schott, Anne F AF; Chinnaiyan, Arul M AM
Publication Date: 2013-12

Variant appearance in text: ESR1: Met543Ala
PubMed Link: 24185510
Variant Present in the following documents:
  • Main text
View BVdb publication page