PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis

Maria Palmieri, Margherita Baldassarri, Francesca Fava, Alessandra Fabbiani, Giuseppe Maria Campennì, Maria Antonietta Mencarelli, Rossella Tita, Stefania Marsili, Alessandra Renieri, Elisa Frullanti

Research output: Contribution to journalReview articlepeer-review


Background: Daily experience tells us that breast cancer can be controlled using standard protocols up to the advent of a relapse. Now new frontiers in precision medicine like liquid biopsy of cell free DNA (cfDNA) give us the possibility to understand cancer evolution and pick up the key mutation on specific cancer driver gene. However, tight schedule of standardized protocol may impair the use of personalized experimental drugs in a timely therapeutic window. Main body: Here, using a combination of deep next generation sequencing and cfDNA liquid biopsy, we demonstrated that it is possible to monitor cancer relapse over time. We showed for the first time the exact correspondence from the increasing clonal expansion and clinical worsening of metastatic breast cancer. Conclusion: Thanks to liquid biopsy may be possible to introduce new experimental drugs in the correct therapeutic window which would lead in the near future to an effective treatment which otherwise remains challenging.

Original languageEnglish
Article number274
JournalCancer Cell International
Issue number1
Publication statusPublished - Oct 28 2019
Externally publishedYes


  • cfDNA
  • Deep-next generation sequencing
  • Liquid biopsy
  • Targeted-therapy

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Cancer Research


Dive into the research topics of 'PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis'. Together they form a unique fingerprint.

Cite this