Mutations in the RAD50 gene can lead to a defective MRN complex, impairing the repair of DNA double-strand breaks. This impairment can result in genomic instability, increasing the likelihood of accumulating additional mutations across the genome. These mutations can activate oncogenes or deactivate tumor suppressor genes, promoting carcinogenesis. Studies have linked RAD50 mutations to several cancer types, including breast, ovarian, and colorectal cancers.
