Chromosome fragility in the buccal epithelium in patients with Fanconi anemia

María José Ramírez, Jordi Minguillón, Sara Loveless, Kelly Lake, Estela Carrasco, Neda Stjepanovic, Judith Balmaña, Albert Català, Parinda A Mehta, Jordi Surrallés, Jordi Minguillon Pedreño

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)


Fanconi anemia (FA) is a rare genome instability syndrome characterized by progressive bone marrow failure and predisposition to cancer, especially head and neck squamous cell carcinoma. Surgical resection is the standard of care for solid tumors, as patients with FA do not tolerate genotoxic chemotherapies or radiation, leading to poor prognosis. It is therefore imperative to develop chemoprevention strategies such as the identification of novel biomarkers to detect the formation of the tumor before its emergence and to use them in clinical trials aimed to counteract genome instability of patients with FA in tissues at risk. Micronuclei (MN) are chromosome fragments that are left behind in anaphase and appear in daughter cells as small additional nuclei. In this work, we analyzed MN frequencies in exfoliated buccal cells from 40 patients with FA and 24 controls. We found that MN frequency was significantly increased in the FA cohort indicating that we can detect chromosome fragility in patients with FA in basal conditions and in a tissue that is divided in vivo. Consequently, the MN assay in exfoliated buccal cells of patients with FA could be used in cancer risk studies and clinical trials aimed to identify cancer chemopreventive drugs.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalCancer Letters
Publication statusPublished - 1 Mar 2020


  • Adolescent
  • Adult
  • Biomarkers, Tumor/genetics
  • Child
  • Child, Preschool
  • Chromosome Fragility/genetics
  • DNA Damage/genetics
  • Epithelium/metabolism
  • Fanconi Anemia/drug therapy
  • Female
  • Genomic Instability/genetics
  • Humans
  • Male
  • Micronuclei, Chromosome-Defective
  • Micronucleus Tests/methods
  • Middle Aged
  • Mouth Mucosa/metabolism
  • Squamous Cell Carcinoma of Head and Neck/drug therapy
  • Young Adult


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