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; ,
Publication Date: 2022-03
Variant appearance in text: BRCA1: 5067G>T; M1689I
Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.
Journal For Immunotherapy Of Cancer
Mazzotta, Marco M; Filetti, Marco M; Occhipinti, Mario M; Marinelli, Daniele D; Scalera, Stefano S; Terrenato, Irene I; Sperati, Francesca F; Pallocca, Matteo M; Rizzo, Francesco F; Gelibter, Alain A; Botticelli, Andrea A; Scafetta, Giorgia G; Di Napoli, Arianna A; Krasniqi, Eriseld E; Pizzuti, Laura L; Barba, Maddalena M; Carpano, Silvia S; Vici, Patrizia P; Fanciulli, Maurizio M; De Nicola, Francesca F; Ciuffreda, Ludovica L; Goeman, Frauke F; De Maria, Ruggero R; Vecchione, Andrea A; Giusti, Raffaele R; Ciliberto, Gennaro G; Marchetti, Paolo P; Maugeri-Saccà, Marcello M
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Accurate classification of BRCA1 variants with saturation genome editing.
Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10
Variant appearance in text: BRCA1: 5067G>T; M1689I
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ