Uncommon mutational profiles of metastatic colorectal cancer detected during routine genotyping using next generation sequencing.
Scientific Reports
Franczak, Claire C; Kandathil, Shaun M SM; Gilson, Pauline P; Husson, Marie M; Rouyer, Marie M; Demange, Jessica J; Leroux, Agnès A; Merlin, Jean-Louis JL; Harlé, Alexandre A
Publication Date: 2019-05-08
Variant appearance in text: BRAF: 1805C>T; Ser602Phe
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
NRAS and BRAF mutations in melanoma-associated nevi and uninvolved nevi.
Plos One
Tschandl, Philipp P; Berghoff, Anna Sophie AS; Preusser, Matthias M; Burgstaller-Muehlbacher, Sebastian S; Pehamberger, Hubert H; Okamoto, Ichiro I; Kittler, Harald H
Comparison of allelic discrimination by dHPLC, HRM, and TaqMan in the detection of BRAF mutation V600E.
The Journal Of Molecular Diagnostics : Jmd
Carbonell, Pablo P; Turpin, María C MC; Torres-Moreno, Daniel D; Molina-Martínez, Irene I; García-Solano, José J; Perez-Guillermo, Miguel M; Conesa-Zamora, Pablo P