Bilallelic germline mutations in MAD1L1 induce a novel syndrome of aneuploidy with high tumor susceptibility
C. Villarroya-Beltri, A. Osorio, R. Torres-Ruiz, D. Gomez-Sanchez, M. Trakala, A. Sanchez-Belmonte, F. Mercadillo, B. Pitarch, A. Hernandez-Nunez, A. Gomez-Caturla, D. Rueda, J. Perea, S. Rodriguez-Perales, M. Malumbres, 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.
bioRxiv · Aug 8, 2022 · PreprintCancer Biology