ESR1 c.1606C>T ;(p.L536F)

Variant ID: 6-152419919-C-T

NM_000125.3(ESR1):c.1606C>T;(p.L536F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


ESR1 mutations in breast cancer.

Cancer
Dustin, Derek D; Gu, Guowei G; Fuqua, Suzanne A W SAW
Publication Date: 2019-11-01

Variant appearance in text: ESR1: L536F
PubMed Link: 31318440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ESR1: L536F
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Hybrid capture-based genomic profiling of circulating tumor DNA from patients with estrogen receptor-positive metastatic breast cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Chung, J H JH; Pavlick, D D; Hartmaier, R R; Schrock, A B AB; Young, L L; Forcier, B B; Ye, P P; Levin, M K MK; Goldberg, M M; Burris, H H; Gay, L M LM; Hoffman, A D AD; Stephens, P J PJ; Frampton, G M GM; Lipson, D M DM; Nguyen, D M DM; Ganesan, S S; Park, B H BH; Vahdat, L T LT; Leyland-Jones, B B; Mughal, T I TI; Pusztai, L L; O'Shaughnessy, J J; Miller, V A VA; Ross, J S JS; Ali, S M SM
Publication Date: 2017-11-01

Variant appearance in text: ESR1: L536F
PubMed Link: 28945887
Variant Present in the following documents:
  • Main text
  • mdx490.pdf
View BVdb publication page