CCND1 Copy Number Variation in Circulating Tumor DNA from Luminal B Breast Cancer Patients

Anticancer Res. 2022 Aug;42(8):4071-4077. doi: 10.21873/anticanres.15904.

Abstract

Background/aim: Abnormalities in the cyclin D1-CDK4/6 complex have been implicated in breast cancer proliferation and resistance to treatment. Recently, new drugs have been developed to target CDK4/6. Meanwhile, liquid biopsy has received great interest in oncology. In this study, we analyzed cyclin D1 gene (CCND1) copy number variation (CNV) in circulating tumor DNA (ctDNA) from luminal B breast cancer patients.

Patients and methods: This study included 31 patients with luminal B breast cancer who underwent resection. We analyzed CCND1 CNV in ctDNA by digital droplet PCR.

Results: Of the 31 luminal B breast cancers, CCND1 CNV was positive in 5 cases. Patients with CCND1 CNV positivity had significantly shorter recurrence-free survival than patients with negative CCND1 CNV.

Conclusion: CCND1 CNV in ctDNA was associated with poor prognosis in patients with luminal B breast cancer. This biomarker could be a useful prognostic factor.

Keywords: Copy number variant; breast cancer; circulating tumor DNA; cyclin D1.

MeSH terms

  • Breast Neoplasms* / pathology
  • Circulating Tumor DNA* / genetics
  • Cyclin D1 / genetics
  • Cyclin D1 / metabolism
  • DNA Copy Number Variations
  • Female
  • Gene Amplification
  • Genes, bcl-1
  • Humans
  • Prognosis
  • Receptors, Estrogen / metabolism

Substances

  • CCND1 protein, human
  • Circulating Tumor DNA
  • Receptors, Estrogen
  • Cyclin D1