Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: MSH2: 1511-9A>T; rs12998837
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Scientific Reports
Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2017-01-04
Variant appearance in text: MSH2: 1511-9A>T; rs12998837
DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.
International Journal Of Molecular Epidemiology And Genetics
Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C
Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons.
Nucleic Acids Research
Gundry, Cameron N CN; Dobrowolski, Steven F SF; Martin, Y Ranae YR; Robbins, Thomas C TC; Nay, Lyle M LM; Boyd, Nathan N; Coyne, Thomas T; Wall, Mikeal D MD; Wittwer, Carl T CT; Teng, David H-F DH
Publication Date: 2008-06
Variant appearance in text: MSH2: 1511-9A>T; rs12998837