Cancer BiologybioRxivPreprint
Bilallelic germline mutations in MAD1L1 induce a novel syndrome of aneuploidy with high tumor susceptibility
C. Villarroya-Beltri, A. Osorio, R. Torres-Ruiz…·M. Urioste
This study identifies biallelic MAD1L1 mutations causing aneuploidy and high tumor susceptibility, with systemic inflammation and clonal expansions observed in patient blood cells.