Combination of variations in inflammation- and endoplasmic reticulum-associated genes as putative biomarker for bevacizumab response in KRAS wild-type colorectal cancer

Sci Rep. 2020 Jun 17;10(1):9778. doi: 10.1038/s41598-020-65869-2.

Abstract

Chemotherapy combined with the angiogenesis inhibitor bevacizumab (BVZ) is approved as a first-line treatment in metastatic colorectal cancer (mCRC). Limited clinical benefit underpins the need for improved understanding of resistance mechanisms and the elucidation of novel predictive biomarkers. We assessed germline single-nucleotide polymorphisms (SNPs) in 180 mCRC patients (Angiopredict [APD] cohort) treated with combined BVZ + chemotherapy and investigated previously reported predictive SNPs. We further employed a machine learning approach to identify novel associations. In the APD cohort IL8 rs4073 any A carriers, compared to TT carriers, were associated with worse progression-free survival (PFS) (HR = 1.51, 95% CI:1.03-2.22, p-value = 0.037) and TBK1 rs7486100 TT carriers, compared to any A carriers, were associated with worse PFS in KRAS wild-type (wt) patients (HR = 1.94, 95% CI:1.04-3.61, p-value = 0.037), replicating previous findings. Machine learning identified novel associations in genes encoding the inflammasome protein NLRP1 and the ER protein Sarcalumenin (SRL). A negative association between PFS and carriers of any A at NLRP1 rs12150220 and AA for SRL rs13334970 in APD KRAS wild-type patients (HR = 4.44, 95% CI:1.23-16.13, p-value = 0.005), which validated in two independent clinical cohorts involving BVZ, MAVERICC and TRIBE. Our findings highlight a key role for inflammation and ER signalling underpinning BVZ + chemotherapy responsiveness.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Aged
  • Angiogenesis Inhibitors / therapeutic use*
  • Apoptosis Regulatory Proteins / genetics
  • Bevacizumab / therapeutic use*
  • Biomarkers, Tumor / genetics*
  • Cohort Studies
  • Colorectal Neoplasms / drug therapy*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / therapy
  • Combined Modality Therapy
  • Endoplasmic Reticulum / genetics*
  • Endoplasmic Reticulum / metabolism
  • Female
  • Genetic Association Studies
  • Humans
  • Inflammation / genetics
  • Machine Learning
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • NLR Proteins
  • Outcome and Process Assessment, Health Care / methods
  • Polymorphism, Single Nucleotide
  • Progression-Free Survival
  • Proto-Oncogene Proteins p21(ras) / genetics*
  • Signal Transduction

Substances

  • Adaptor Proteins, Signal Transducing
  • Angiogenesis Inhibitors
  • Apoptosis Regulatory Proteins
  • Biomarkers, Tumor
  • KRAS protein, human
  • Membrane Proteins
  • NLR Proteins
  • NLRP1 protein, human
  • sarcalumenin
  • Bevacizumab
  • Proto-Oncogene Proteins p21(ras)