Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer.
Owen J ChenEster CastellsaguéMohamed Moustafa-KamalJavad NadafBarbara RiveraSomayyeh FahiminiyaYilin WangIsabelle GamacheCaterina PacificoLai JiangJian Carrot-ZhangLeora WitkowskiAlbert M BerghuisStefan SchönbergerDominik T SchneiderMorten HillmerSusanne BensReiner SiebertColin J R StewartZiguo ZhangWilliam C H ChaoCelia M T GreenwoodDavid BarfordMarc TischkowitzJacek MajewskiWilliam D FoulkesJose G TeodoroPublished in: Cancer research (2022)
Two germline CDC20 missense variants that segregate with cancer in two families compromise the spindle assembly checkpoint and lead to aberrant mitotic progression, which could predispose cells to transformation. See related commentary by Villarroya-Beltri and Malumbres, p. 3432.