Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.
Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04
Variant appearance in text: BRAF: R347Q; rs397516884
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05
Variant appearance in text: BRAF: 1040G>A; Arg347Gln
Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers.
Scientific Reports
Gilson, Pauline P; Levy, Julien J; Rouyer, Marie M; Demange, Jessica J; Husson, Marie M; Bonnet, Céline C; Salleron, Julia J; Leroux, Agnès A; Merlin, Jean-Louis JL; Harlé, Alexandre A
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Robbe, Pauline P; Popitsch, Niko N; Knight, Samantha J L SJL; Antoniou, Pavlos P; Becq, Jennifer J; He, Miao M; Kanapin, Alexander A; Samsonova, Anastasia A; Vavoulis, Dimitrios V DV; Ross, Mark T MT; Kingsbury, Zoya Z; Cabes, Maite M; Ramos, Sara D C SDC; Page, Suzanne S; Dreau, Helene H; Ridout, Kate K; Jones, Louise J LJ; Tuff-Lacey, Alice A; Henderson, Shirley S; Mason, Joanne J; Buffa, Francesca M FM; Verrill, Clare C; Maldonado-Perez, David D; Roxanis, Ioannis I; Collantes, Elena E; Browning, Lisa L; Dhar, Sunanda S; Damato, Stephen S; Davies, Susan S; Caulfield, Mark M; Bentley, David R DR; Taylor, Jenny C JC; Turnbull, Clare C; Schuh, Anna A; ,
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility.
Oncotarget
Alvi, Muhammad A MA; McArt, Darragh G DG; Kelly, Paul P; Fuchs, Marc-Aurel MA; Alderdice, Matthew M; McCabe, Clare M CM; Bingham, Victoria V; McGready, Claire C; Tripathi, Shailesh S; Emmert-Streib, Frank F; Loughrey, Maurice B MB; McQuaid, Stephen S; Maxwell, Perry P; Hamilton, Peter W PW; Turkington, Richard R; James, Jacqueline A JA; Wilson, Richard H RH; Salto-Tellez, Manuel M
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14
Variant appearance in text: BRAF: 1040G>A; Arg347His
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
The Journal Of Investigative Dermatology
Levinsohn, Jonathan L JL; Tian, Li C LC; Boyden, Lynn M LM; McNiff, Jennifer M JM; Narayan, Deepak D; Loring, Erin S ES; Yun, Duri D; Sugarman, Jeffrey L JL; Overton, John D JD; Mane, Shrikant M SM; Lifton, Richard P RP; Paller, Amy S AS; Wagner, Annette M AM; Antaya, Richard J RJ; Choate, Keith A KA