Molecular portraits of cell cycle checkpoint kinases in cancer evolution, progression, and treatment responsiveness

Abstract

Cell cycle dysregulation is prerequisite for cancer formation. However, it is unknown whether the mode of dysregulation affects disease characteristics. Here, we conduct comprehensive analyses of cell cycle checkpoint dysregulation using patient data and experimental investigations. We find that ATM mutation predisposes the diagnosis of primary estrogen receptor (ER) + /human epidermal growth factor (HER)2 − cancer in older women. Conversely, CHK2 dysregulation induces formation of metastatic, premenopausal ER + /HER2 − breast cancer ( P = 0.001) that is treatment-resistant (HR = 6.15, P = 0.01). Lastly, while mutations in ATR alone are rare, ATR / TP53 co-mutation is 12-fold enriched over expected in ER + /HER2 − disease ( P = 0.002) and associates with metastatic progression (HR = 2.01, P = 0.006). Concordantly, ATR dysregulation induces metastatic phenotypes in TP53 mutant, not wild-type, cells. Overall, we identify mode of cell cycle dysregulation as a distinct event that determines subtype, metastatic potential, and treatment responsiveness, providing rationale for reconsidering diagnostic classification through the lens of the mode of cell cycle dysregulation. .

Document Details

Document Type
Pub Defense Publication
Publication Date
Jun 30, 2023
Source ID
10.1126/sciadv.adf2860

Entities

People

  • Aloran Mazumder
  • Athena Jimenez
  • Bora Lim
  • Daniel A. Lozano
  • Dillon A. Noltensmeyer
  • Elena Oropeza
  • Jonathan T. Lei
  • Matthew N Bainbridge
  • Nindo Punturi
  • Sabrina Carrel
  • Sabrina N. VandenHeuvel
  • Shreya Raghavan
  • Sinem Şeker
  • Susan E. Waltz
  • Svasti Haricharan

Organizations

  • Baylor College of Medicine
  • Sanford Burnham Prebys Medical Discovery Institute
  • University of Cincinnati

Tags

Fields of Study

  • Biology

Readers

  • Breast cancer cell signaling and growth regulation.
  • Molecular and genetic basis of cancer.