Whole-genome characterization of chemoresistant ovarian cancer

Nature. 2015 May 28;521(7553):489-94. doi: 10.1038/nature14410.

Abstract

Patients with high-grade serous ovarian cancer (HGSC) have experienced little improvement in overall survival, and standard treatment has not advanced beyond platinum-based combination chemotherapy, during the past 30 years. To understand the drivers of clinical phenotypes better, here we use whole-genome sequencing of tumour and germline DNA samples from 92 patients with primary refractory, resistant, sensitive and matched acquired resistant disease. We show that gene breakage commonly inactivates the tumour suppressors RB1, NF1, RAD51B and PTEN in HGSC, and contributes to acquired chemotherapy resistance. CCNE1 amplification was common in primary resistant and refractory disease. We observed several molecular events associated with acquired resistance, including multiple independent reversions of germline BRCA1 or BRCA2 mutations in individual patients, loss of BRCA1 promoter methylation, an alteration in molecular subtype, and recurrent promoter fusion associated with overexpression of the drug efflux pump MDR1.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 1 / genetics
  • Cohort Studies
  • Cyclin E / genetics
  • Cystadenocarcinoma, Serous / drug therapy
  • Cystadenocarcinoma, Serous / genetics
  • DNA Methylation
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Drug Resistance, Neoplasm / drug effects*
  • Drug Resistance, Neoplasm / genetics*
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genes, Neurofibromatosis 1
  • Genome, Human / genetics*
  • Germ-Line Mutation / genetics
  • Humans
  • Mutagenesis / genetics
  • Oncogene Proteins / genetics
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics*
  • PTEN Phosphohydrolase / genetics
  • Promoter Regions, Genetic / genetics
  • Retinoblastoma Protein / genetics

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 1
  • CCNE1 protein, human
  • Cyclin E
  • DNA-Binding Proteins
  • Oncogene Proteins
  • RAD51B protein, human
  • Retinoblastoma Protein
  • PTEN Phosphohydrolase
  • PTEN protein, human

Associated data

  • GEO/GSE65821