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Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer.

Malin DahlgrenAnthony M GeorgeChristian BruefferSergii GladchukYilun ChenJohan Vallon-ChristerssonCecilia HegardtJari HäkkinenLisa RydénMartin MalmbergChrister LarssonSofia K Gruvberger-SaalAnna EhingerNiklas LomanÅke BorgLao H Saal
Published in: JNCI cancer spectrum (2021)
These population-based results indicate that ESR1 mutations at diagnosis of primary breast cancer occur in about 1% of women and identify for the first time in the adjuvant setting that such preexisting mutations are associated to eventual resistance to standard hormone therapy. If replicated, tumor ESR1 screening should be considered in ER-positive primary breast cancer, and for patients with mutated disease, ER degraders such as fulvestrant or other therapeutic options may be considered as more appropriate.
Keyphrases
  • estrogen receptor
  • early stage
  • type diabetes
  • pregnant women
  • squamous cell carcinoma
  • radiation therapy
  • copy number
  • cell therapy
  • genome wide
  • childhood cancer