ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).
Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: TP53: K357R; rs763426446
Epigenetic priming in chronic liver disease impacts the transcriptional and genetic landscapes of hepatocellular carcinoma.
Molecular Oncology
Gallon, John J; Coto-Llerena, Mairene M; Ercan, Caner C; Bianco, Gaia G; Paradiso, Viola V; Nuciforo, Sandro S; Taha-Melitz, Stephanie S; Meier, Marie-Anne MA; Boldanova, Tujana T; Pérez-Del-Pulgar, Sofía S; Rodríguez-Tajes, Sergio S; von Flüe, Markus M; Soysal, Savas D SD; Kollmar, Otto O; Llovet, Josep M JM; Villanueva, Augusto A; Terracciano, Luigi M LM; Heim, Markus H MH; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S
Publication Date: 2022-02
Variant appearance in text: TP53: 1070A>G; Lys357Arg
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18
Variant appearance in text: TP53: 1070A>G; Lys357Arg; rs763426446
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T