The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity.
Nar Cancer
Labrousse, Guillaume G; Vande Perre, Pierre P; Parra, Genis G; Jaffrelot, Marion M; Leroy, Laura L; Chibon, Frederic F; Escudie, Frederic F; Selves, Janick J; Hoffmann, Jean-Sebastien JS; Guimbaud, Rosine R; Lutzmann, Malik M
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Molecular Genetics And Genomics : Mgg
Rocque, Mariève J MJ; Leipart, Vilde V; Kumar Singh, Ashish A; Mur, Pilar P; Olsen, Maren F MF; Engebretsen, Lars F LF; Martin-Ramos, Edgar E; Aligué, Rosa R; Sætrom, Pål P; Valle, Laura L; Drabløs, Finn F; Otterlei, Marit M; Sjursen, Wenche W
Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.
Cancer Research
Galati, Melissa A MA; Hodel, Karl P KP; Gams, Miki S MS; Sudhaman, Sumedha S; Bridge, Taylor T; Zahurancik, Walter J WJ; Ungerleider, Nathan A NA; Park, Vivian S VS; Ercan, Ayse B AB; Joksimovic, Lazar L; Siddiqui, Iram I; Siddaway, Robert R; Edwards, Melissa M; de Borja, Richard R; Elshaer, Dana D; Chung, Jiil J; Forster, Victoria J VJ; Nunes, Nuno M NM; Aronson, Melyssa M; Wang, Xia X; Ramdas, Jagadeesh J; Seeley, Andrea A; Sarosiek, Tomasz T; Dunn, Gavin P GP; Byrd, Jonathan N JN; Mordechai, Oz O; Durno, Carol C; Martin, Alberto A; Shlien, Adam A; Bouffet, Eric E; Suo, Zucai Z; Jackson, James G JG; Hawkins, Cynthia E CE; Guidos, Cynthia J CJ; Pursell, Zachary F ZF; Tabori, Uri U
POLE Mutation Spectra Are Shaped by the Mutant Allele Identity, Its Abundance, and Mismatch Repair Status.
Molecular Cell
Hodel, Karl P KP; Sun, Meijuan J S MJS; Ungerleider, Nathan N; Park, Vivian S VS; Williams, Leonard G LG; Bauer, David L DL; Immethun, Victoria E VE; Wang, Jieqiong J; Suo, Zucai Z; Lu, Hua H; McLachlan, James B JB; Pursell, Zachary F ZF
Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair.
Elife
Hodel, Karl P KP; de Borja, Richard R; Henninger, Erin E EE; Campbell, Brittany B BB; Ungerleider, Nathan N; Light, Nicholas N; Wu, Tong T; LeCompte, Kimberly G KG; Goksenin, A Yasemin AY; Bunnell, Bruce A BA; Tabori, Uri U; Shlien, Adam A; Pursell, Zachary F ZF
Comprehensive Analysis of Hypermutation in Human Cancer.
Cell
Campbell, Brittany B BB; Light, Nicholas N; Fabrizio, David D; Zatzman, Matthew M; Fuligni, Fabio F; de Borja, Richard R; Davidson, Scott S; Edwards, Melissa M; Elvin, Julia A JA; Hodel, Karl P KP; Zahurancik, Walter J WJ; Suo, Zucai Z; Lipman, Tatiana T; Wimmer, Katharina K; Kratz, Christian P CP; Bowers, Daniel C DC; Laetsch, Theodore W TW; Dunn, Gavin P GP; Johanns, Tanner M TM; Grimmer, Matthew R MR; Smirnov, Ivan V IV; Larouche, Valérie V; Samuel, David D; Bronsema, Annika A; Osborn, Michael M; Stearns, Duncan D; Raman, Pichai P; Cole, Kristina A KA; Storm, Phillip B PB; Yalon, Michal M; Opocher, Enrico E; Mason, Gary G; Thomas, Gregory A GA; Sabel, Magnus M; George, Ben B; Ziegler, David S DS; Lindhorst, Scott S; Issai, Vanan Magimairajan VM; Constantini, Shlomi S; Toledano, Helen H; Elhasid, Ronit R; Farah, Roula R; Dvir, Rina R; Dirks, Peter P; Huang, Annie A; Galati, Melissa A MA; Chung, Jiil J; Ramaswamy, Vijay V; Irwin, Meredith S MS; Aronson, Melyssa M; Durno, Carol C; Taylor, Michael D MD; Rechavi, Gideon G; Maris, John M JM; Bouffet, Eric E; Hawkins, Cynthia C; Costello, Joseph F JF; Meyn, M Stephen MS; Pursell, Zachary F ZF; Malkin, David D; Tabori, Uri U; Shlien, Adam A
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.
Genome Research
Shinbrot, Eve E; Henninger, Erin E EE; Weinhold, Nils N; Covington, Kyle R KR; Göksenin, A Yasemin AY; Schultz, Nikolaus N; Chao, Hsu H; Doddapaneni, HarshaVardhan H; Muzny, Donna M DM; Gibbs, Richard A RA; Sander, Chris C; Pursell, Zachary F ZF; Wheeler, David A DA