Nature Communications (Mar 2017)

MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation

  • Inga-Marie Schaefer,
  • Yuexiang Wang,
  • Cher-wei Liang,
  • Nacef Bahri,
  • Anna Quattrone,
  • Leona Doyle,
  • Adrian Mariño-Enríquez,
  • Alexandra Lauria,
  • Meijun Zhu,
  • Maria Debiec-Rychter,
  • Susanne Grunewald,
  • Jaclyn F. Hechtman,
  • Armelle Dufresne,
  • Cristina R. Antonescu,
  • Carol Beadling,
  • Ewa T. Sicinska,
  • Matt van de Rijn,
  • George D. Demetri,
  • Marc Ladanyi,
  • Christopher L. Corless,
  • Michael C. Heinrich,
  • Chandrajit P. Raut,
  • Sebastian Bauer,
  • Jonathan A. Fletcher

DOI
https://doi.org/10.1038/ncomms14674
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 6

Abstract

Read online

In gastrointestinal stromal tumours early mutations in known genes are frequently followed by chromosome 14q deletion. Here the authors find mutations resulting in loss of MAX protein expression conserved between primary tumours and metastases in the same patients, suggesting thatMAXmutation is an early event.