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A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Breast. 2024 Mar 25;75:103721. doi: 10.1016/j.breast.2024.103721. Online ahead of print.
Breast. 2024.
PMID: 38554551
Free PMC article.
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.
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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: kosarova 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.
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Re: ERCC3, a new ovarian cancer susceptibility gene?
Soukupova J, Zemankova P, Nehasil P, Kleibl Z; CZECANCA consortium.
Soukupova J, et al.
Eur J Cancer. 2021 Jun;150:278-280. doi: 10.1016/j.ejca.2021.03.014. Epub 2021 Apr 21.
Eur J Cancer. 2021.
PMID: 33895055
No abstract available.
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Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, Kosarova M, Vrtel R, Stranecky V, Kmoch S, Zikan M, Macurek L, Kleibl Z, Soukupova J.
Lhotova K, et al. Among authors: kosarova m.
Cancers (Basel). 2020 Apr 13;12(4):956. doi: 10.3390/cancers12040956.
Cancers (Basel). 2020.
PMID: 32295079
Free PMC article.
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Mouse to human comparative genetics reveals a novel immunoglobulin E-controlling locus on Hsa8q12.
Gusareva ES, Havelková H, Blazková H, Kosarová M, Kucera P, Král V, Salyakina D, Müller-Myhsok B, Lipoldová M.
Gusareva ES, et al. Among authors: kosarova m.
Immunogenetics. 2009 Jan;61(1):15-25. doi: 10.1007/s00251-008-0343-x. Epub 2008 Nov 18.
Immunogenetics. 2009.
PMID: 19015841
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