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Page 1
A community approach to the cancer-variant-interpretation bottleneck.
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. Krysiak K, et al. Among authors: horak p. Nat Cancer. 2022 May;3(5):522-525. doi: 10.1038/s43018-022-00379-w. Nat Cancer. 2022. PMID: 35624339 Free PMC article.
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine.
Horak P, Leichsenring J, Goldschmid H, Kreutzfeldt S, Kazdal D, Teleanu V, Endris V, Gieldon L, Allgäuer M, Volckmar AL, Dikow N, Renner M, Kirchner M, Penzel R, Ploeger C, Brandt R, Seker-Cin H, Budczies J, Heilig CE, Neumann O, Schaaf CP, Schirmacher P, Fröhling S, Stenzinger A. Horak P, et al. Genes Chromosomes Cancer. 2022 Jun;61(6):303-313. doi: 10.1002/gcc.22987. Epub 2021 Aug 9. Genes Chromosomes Cancer. 2022. PMID: 34331337 Review.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. Horak P, et al. Genet Med. 2022 May;24(5):986-998. doi: 10.1016/j.gim.2022.01.001. Epub 2022 Jan 29. Genet Med. 2022. PMID: 35101336 Free PMC article.
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.
Tamborero D, Dienstmann R, Rachid MH, Boekel J, Lopez-Fernandez A, Jonsson M, Razzak A, Braña I, De Petris L, Yachnin J, Baird RD, Loriot Y, Massard C, Martin-Romano P, Opdam F, Schlenk RF, Vernieri C, Masucci M, Villalobos X, Chavarria E; Cancer Core Europe consortium; Balmaña J, Apolone G, Caldas C, Bergh J, Ernberg I, Fröhling S, Garralda E, Karlsson C, Tabernero J, Voest E, Rodon J, Lehtiö J. Tamborero D, et al. Nat Cancer. 2022 Feb;3(2):251-261. doi: 10.1038/s43018-022-00332-x. Epub 2022 Feb 24. Nat Cancer. 2022. PMID: 35221333 Free PMC article.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. Horak P, et al. Genet Med. 2022 Sep;24(9):1991. doi: 10.1016/j.gim.2022.07.001. Genet Med. 2022. PMID: 36063163 Free article. No abstract available.
Variant classification in precision oncology.
Leichsenring J, Horak P, Kreutzfeldt S, Heining C, Christopoulos P, Volckmar AL, Neumann O, Kirchner M, Ploeger C, Budczies J, Heilig CE, Hutter B, Fröhlich M, Uhrig S, Kazdal D, Allgäuer M, Harms A, Rempel E, Lehmann U, Thomas M, Pfarr N, Azoitei N, Bonzheim I, Marienfeld R, Möller P, Werner M, Fend F, Boerries M, von Bubnoff N, Lassmann S, Longerich T, Bitzer M, Seufferlein T, Malek N, Weichert W, Schirmacher P, Penzel R, Endris V, Brors B, Klauschen F, Glimm H, Fröhling S, Stenzinger A. Leichsenring J, et al. Among authors: horak p. Int J Cancer. 2019 Dec 1;145(11):2996-3010. doi: 10.1002/ijc.32358. Epub 2019 May 21. Int J Cancer. 2019. PMID: 31008532
The landscape of chromothripsis across adult cancer types.
Voronina N, Wong JKL, Hübschmann D, Hlevnjak M, Uhrig S, Heilig CE, Horak P, Kreutzfeldt S, Mock A, Stenzinger A, Hutter B, Fröhlich M, Brors B, Jahn A, Klink B, Gieldon L, Sieverling L, Feuerbach L, Chudasama P, Beck K, Kroiss M, Heining C, Möhrmann L, Fischer A, Schröck E, Glimm H, Zapatka M, Lichter P, Fröhling S, Ernst A. Voronina N, et al. Among authors: horak p. Nat Commun. 2020 May 8;11(1):2320. doi: 10.1038/s41467-020-16134-7. Nat Commun. 2020. PMID: 32385320 Free PMC article.
Sarcoma classification by DNA methylation profiling.
Koelsche C, Schrimpf D, Stichel D, Sill M, Sahm F, Reuss DE, Blattner M, Worst B, Heilig CE, Beck K, Horak P, Kreutzfeldt S, Paff E, Stark S, Johann P, Selt F, Ecker J, Sturm D, Pajtler KW, Reinhardt A, Wefers AK, Sievers P, Ebrahimi A, Suwala A, Fernández-Klett F, Casalini B, Korshunov A, Hovestadt V, Kommoss FKF, Kriegsmann M, Schick M, Bewerunge-Hudler M, Milde T, Witt O, Kulozik AE, Kool M, Romero-Pérez L, Grünewald TGP, Kirchner T, Wick W, Platten M, Unterberg A, Uhl M, Abdollahi A, Debus J, Lehner B, Thomas C, Hasselblatt M, Paulus W, Hartmann C, Staszewski O, Prinz M, Hench J, Frank S, Versleijen-Jonkers YMH, Weidema ME, Mentzel T, Griewank K, de Álava E, Martín JD, Gastearena MAI, Chang KT, Low SYY, Cuevas-Bourdier A, Mittelbronn M, Mynarek M, Rutkowski S, Schüller U, Mautner VF, Schittenhelm J, Serrano J, Snuderl M, Büttner R, Klingebiel T, Buslei R, Gessler M, Wesseling P, Dinjens WNM, Brandner S, Jaunmuktane Z, Lyskjær I, Schirmacher P, Stenzinger A, Brors B, Glimm H, Heining C, Tirado OM, Sáinz-Jaspeado M, Mora J, Alonso J, Del Muro XG, Moran S, Esteller M, Benhamida JK, Ladanyi M, Wardelmann E, Antonescu C, Flanagan A, Dirksen U, Hohenberger P, Baumhoer D, Hart… See abstract for full author list ➔ Koelsche C, et al. Among authors: horak p. Nat Commun. 2021 Jan 21;12(1):498. doi: 10.1038/s41467-020-20603-4. Nat Commun. 2021. PMID: 33479225 Free PMC article.
502 results