Nature Communications (Sep 2018)

The prognostic effects of somatic mutations in ER-positive breast cancer

  • Obi L. Griffith,
  • Nicholas C. Spies,
  • Meenakshi Anurag,
  • Malachi Griffith,
  • Jingqin Luo,
  • Dongsheng Tu,
  • Belinda Yeo,
  • Jason Kunisaki,
  • Christopher A Miller,
  • Kilannin Krysiak,
  • Jasreet Hundal,
  • Benjamin J Ainscough,
  • Zachary L. Skidmore,
  • Katie Campbell,
  • Runjun Kumar,
  • Catrina Fronick,
  • Lisa Cook,
  • Jacqueline E. Snider,
  • Sherri Davies,
  • Shyam M. Kavuri,
  • Eric C. Chang,
  • Vincent Magrini,
  • David E. Larson,
  • Robert S Fulton,
  • Shuzhen Liu,
  • Samuel Leung,
  • David Voduc,
  • Ron Bose,
  • Mitch Dowsett,
  • Richard K. Wilson,
  • Torsten O. Nielsen,
  • Elaine R Mardis,
  • Matthew J. Ellis

DOI
https://doi.org/10.1038/s41467-018-05914-x
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 16

Abstract

Read online

Unravelling the link between somatic mutation and prognosis in estrogen positive (ER+) breast cancer requires the use of long-term follow-up data. Here, combining archival formalin-fixed paraffin embedded tissue and targeted sequencing in three cohorts of ER+ breast cancer, the authors find associations with clinical outcome for NF1 frame-shift nonsense mutations, PIK3R1 mutation, and DDR1 mutations.