Whole genome analysis identifies the association of TP53 genomic deletions with lower survival in Stage III colorectal cancer

Sci Rep. 2020 Mar 19;10(1):5009. doi: 10.1038/s41598-020-61643-6.

Abstract

DNA copy number aberrations (CNA) are frequently observed in colorectal cancers (CRC). There is an urgent need for CNA-based biomarkers in clinics,. n For Stage III CRC, if combined with imaging or pathologic evidence, these markers promise more precise care. We conducted this Stage III specific biomarker discovery with a cohort of 134 CRCs, and with a newly developed high-efficiency CNA profiling protocol. Specifically, we developed the profiling protocol for tumor-normal matched tissue samples based on low-coverage clinical whole-genome sequencing (WGS). We demonstrated the protocol's accuracy and robustness by a systematic benchmark with microarray, high-coverage whole-exome and -genome approaches, where the low-coverage WGS-derived CNA segments were highly accordant (PCC >0.95) with those derived from microarray, and they were substantially less variable if compared to exome-derived segments. A lasso-based model and multivariate cox regression analysis identified a chromosome 17p loss, containing the TP53 tumor suppressor gene, that was significantly associated with reduced survival (P = 0.0139, HR = 1.688, 95% CI = [1.112-2.562]), which was validated by an independent cohort of 187 Stage III CRCs. In summary, this low-coverage WGS protocol has high sensitivity, high resolution and low cost and the identified 17p-loss is an effective poor prognosis marker for Stage III patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17 / genetics
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / mortality*
  • DNA Copy Number Variations / genetics*
  • Female
  • Gene Deletion*
  • Genetic Markers
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Staging
  • Prognosis
  • Smith-Magenis Syndrome / diagnosis
  • Smith-Magenis Syndrome / genetics
  • Survival Rate
  • Tumor Suppressor Protein p53 / genetics*
  • Whole Genome Sequencing / methods*
  • Young Adult

Substances

  • Biomarkers, Tumor
  • Genetic Markers
  • TP53 protein, human
  • Tumor Suppressor Protein p53

Supplementary concepts

  • Chromosome 17 deletion