Chromosome instability in lymphocytes from two patients affected by three sequential primary cancers: the role of fragile sites
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Updated: Oct 23, 2026

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
Published on: January 24, 2025
1Departament de Biologia Cellular i Fisiologia, Facultat de Medicina, Universitat Antònoma de Barcelona, Spain.
Abstract:
The chromosomal aberration rate and the expression of fragile sites induced by aphidicolin were evaluated in metaphase chromosomes obtained from peripheral blood lymphocytes of two untreated patients with multiple primary cancers. Spontaneous aberrations of chromosome number and structure and chromosome fragility were compared with controls with the use of the same methods. Chromosomal aberration rates and expression frequencies of fragile sites were significantly higher in the patients than in normal control subjects. In the patients, all but one structural chromosome aberration involved at least one fragile site. Our results suggest that fragile sites may be unstable regions of the human genome, which might play an important role in the genetic instability associated with cancer predisposition.
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