IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24
Variant appearance in text: MSH2: 565G>A; Ala189Thr; rs63750821
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24
Variant appearance in text: MSH2: 565G>A; Ala189Thr; rs63750821
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ