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: 5231G>C; Arg1744Thr
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
Publication Date: 2020-11
Variant appearance in text: BRCA1: 5231G>C; R1744T
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: 5231G>C; R1744T
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