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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.
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.
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.
Response to Mehta et al.
Horak P, Chakravarty D, Sonkin D. Horak P, et al. Genet Med. 2022 Sep;24(9):1989-1990. doi: 10.1016/j.gim.2022.05.018. Epub 2022 Jul 7. Genet Med. 2022. PMID: 35796744 Free article. No abstract available.
[Variant interpretation in molecular pathology and oncology : An introduction].
Horak P, Leichsenring J, Kreutzfeldt S, Kazdal D, Teleanu V, Endris V, Volckmar AL, Renner M, Kirchner M, Heilig CE, Neumann O, Schirmacher P, Fröhling S, Stenzinger A. Horak P, et al. Pathologe. 2021 Jul;42(4):369-379. doi: 10.1007/s00292-021-00938-5. Epub 2021 May 3. Pathologe. 2021. PMID: 33938987 Review. German.
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
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma.
Busch E, Kreutzfeldt S, Agaimy A, Mechtersheimer G, Horak P, Brors B, Hutter B, Fröhlich M, Uhrig S, Mayer P, Schröck E, Stenzinger A, Glimm H, Jäger D, Springfeld C, Fröhling S, Zschäbitz S. Busch E, et al. Among authors: horak p. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005553. doi: 10.1101/mcs.a005553. Print 2020 Aug. Cold Spring Harb Mol Case Stud. 2020. PMID: 32843432 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.
Erratum zu: Varianteninterpretation in dermolekularen Pathologie und Onkologie.
Horak P, Leichsenring J, Kreutzfeldt S, Kazdal D, Teleanu V, Endris V, Volckmar AL, Renner M, Kirchner M, Heilig CE, Neumann O, Schirmacher P, Fröhling S, Stenzinger A. Horak P, et al. Pathologe. 2021 Nov;42(6):602. doi: 10.1007/s00292-021-01002-y. Pathologe. 2021. PMID: 34605937 German. No abstract available.
502 results