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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De Nicolo… See abstract for full author list ➔ Stolarova L, et al. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
Germline multigene panel testing of patients with endometrial cancer.
Kral J, Jelinkova S, Zemankova P, Vocka M, Borecka M, Cerna L, Cerna M, Dostalek L, Duskova P, Foretova L, Havranek O, Horackova K, Hovhannisyan M, Chvojka S, Kalousova M, Kosarova M, Koudova M, Krutilkova V, Machackova E, Nehasil P, Novotny J, Otahalova B, Puchmajerova A, Safarikova M, Slama J, Stranecky V, Subrt I, Tavandzis S, Zikan M, Zima T, Soukupova J, Kleiblova P, Kleibl Z, Janatova M. Kral J, et al. Among authors: hovhannisyan m. Oncol Lett. 2023 Apr 12;25(6):216. doi: 10.3892/ol.2023.13802. eCollection 2023 Jun. Oncol Lett. 2023. PMID: 37153042 Free PMC article.
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.
Horackova K, Frankova S, Zemankova P, Nehasil P, Cerna M, Neroldova M, Otahalova B, Kral J, Hovhannisyan M, Stranecky V, Zima T, Safarikova M, Kalousova M, Consortium C, Novotny J, Sperl J, Borecka M, Jelinkova S, Vocka M, Janatova M, Kleiblova P, Kleibl Z, Jirsa M, Soukupova J. Horackova K, et al. Among authors: hovhannisyan m. Cancers (Basel). 2022 Dec 29;15(1):201. doi: 10.3390/cancers15010201. Cancers (Basel). 2022. PMID: 36612198 Free PMC article.
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Zemankova P, Cerna M, Horackova K, Ernst C, Soukupova J, Borecka M, Blümcke B, Cerna L, Cerna M, Curtisova V, Dolezalova T, Duskova P, Dvorakova L, Foretova L, Havranek O, Hauke J, Hahnen E, Hodulova M, Hovhannisyan M, Hruskova L, Janatova M, Janikova M, Jelinkova S, Just P, Kosarova M, Koudova M, Krutilkova V, Machackova E, Matejkova K, Michalovska R, Misove A, Nehasil P, Nemcova B, Novotny J, Panczak A, Pesek P, Scheinost O, Springer D, Stastna B, Stranecky V, Subrt I, Tavandzis S, Tureckova E, Vesela K, Vlckova Z, Vocka M, Wappenschmidt B, Zima T, Kleibl Z, Kleiblova P. Zemankova P, et al. Among authors: hovhannisyan m. Breast. 2024 Mar 25;75:103721. doi: 10.1016/j.breast.2024.103721. Online ahead of print. Breast. 2024. PMID: 38554551 Free PMC article.