Chromosomal breakage and sister chromatid exchange analysis in breast cancer patients with heterozygous BLM gene variants

Abstract

BLM, a member of the RecQ helicase family, plays an important role in DNA repair, and its biallelic mutations cause autosomal recessive Bloom syndrome, a disease characterized by elevated levels of sister chromatid exchange (SCE) in affected individuals and hereditary cancer susceptibility in carriers. This study aims to investigate genomic instability in breast cancer patients carrying heterozygous variants in the BLM gene.

Keywords

• blm
• chromosomal instability
• sister chromatid exchange
• sce
• dna repair mechanisms
• chromosome breakage