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: 298G>A; Val100Ile
Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Wang, Tao T; Lee, Lik Hang LH; Vyas, Monika M; Zhang, Liying L; Ganesh, Karuna K; Firat, Canan C; Segal, Neil H NH; Desai, Avni A; Hechtman, Jaclyn F JF; Ntiamoah, Peter P; Weiser, Martin R MR; Markowitz, Arnold J AJ; Vakiani, Efsevia E; Klimstra, David S DS; Stadler, Zsofia K ZK; Shia, Jinru J
Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.
Familial Cancer
Wang, Tao T; Stadler, Zsofia K ZK; Zhang, Liying L; Weiser, Martin R MR; Basturk, Olca O; Hechtman, Jaclyn F JF; Vakiani, Efsevia E; Saltz, Lenard B LB; Klimstra, David S DS; Shia, Jinru J