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: MSH2: 1074G>T; Glu358Asp
Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.
Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10
Variant appearance in text: MSH2: 1074G>T; Glu358Asp
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.
Bmc Bioinformatics
Thutkawkorapin, Jessada J; Eisfeldt, Jesper J; Tham, Emma E; Nilsson, Daniel D
Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer.
Journal Of Experimental & Clinical Cancer Research : Cr
Zaravinos, Apostolos A; Roufas, Constantinos C; Nagara, Majdi M; de Lucas Moreno, Beatriz B; Oblovatskaya, Maria M; Efstathiades, Christodoulos C; Dimopoulos, Christos C; Ayiomamitis, Georgios D GD
Publication Date: 2019-08-20
Variant appearance in text: MSH2: 1074G>T; Glu358Asp