Mutations in BUB1B can impair its function, leading to defective mitotic checkpoint control. This can result in improper chromosome segregation and aneuploidy, which promotes genetic diversity within tumors and contributes to cancer progression and resistance to therapy. Studies have shown that certain germline mutations in BUB1B are linked to Mosaic Variegated Aneuploidy (MVA) syndrome, a rare condition that predisposes individuals to early-onset cancers.
