Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nature Cancer
Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
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