mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.
Epilepsia Open
Garcia, Camila A B CAB; Carvalho, Simone C S SCS; Yang, Xiaoxu X; Ball, Laurel L LL; George, Renee D RD; James, Kiely N KN; Stanley, Valentina V; Breuss, Martin W MW; Thomé, Ursula U; Santos, Marcelo V MV; Saggioro, Fabiano P FP; Neder Serafini, Luciano L; Silva, Wilson A WA; Gleeson, Joseph G JG; Machado, Hélio R HR
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07
Variant appearance in text: PIK3CA: 1924G>A; E642K