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2018 2
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Page 1
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… 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.
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z. Kleiblova P, et al. Among authors: stolarova l. Int J Cancer. 2019 Oct 1;145(7):1782-1797. doi: 10.1002/ijc.32385. Epub 2019 May 20. Int J Cancer. 2019. PMID: 31050813
Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia.
Takehara Y, Usui Y, Stolařová L, Kleiblova P, Iwasaki Y, Johnson TA, Hirata M, Kamatani Y, Murakami Y, Endo M, Shiraishi K, Kohno T, Sugano K, Matsuda K, Yoshida T, Spurdle AB, Nakagawa H, Macurek L, Kleibl Z, Momozawa Y. Takehara Y, et al. Among authors: stolarova l. JCO Precis Oncol. 2025 Sep;9:e2400945. doi: 10.1200/PO-24-00945. Epub 2025 Sep 2. JCO Precis Oncol. 2025. PMID: 40893051 Free PMC article.
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.
Soukupova J, Stastna B, Kanwal M, Hojny J, Zemankova P, Borecka M, Cerna L, Cerna M, Cerna M, Curtisova V, Dolezalova T, Duskova P, Foretova L, Havranek O, Horackova K, Hovhannisyan M, Hruskova L, Chvojka S, Janatova M, Janikova M, Jelinkova S, Just P, Kalousova M, Kleiblova P, Kosarova M, Koudova M, Kral J, Krausova M, Krutilkova V, Machackova E, Matejkova K, Michalovska R, Nehasil P, Nemcova B, Novotny J, Palek M, Pesek P, Safarikova M, Scheinost O, Springer D, Stolarova L, Stranecky V, Subrt I, Tavandzis S, Tureckova E, Vesela K, Vlckova Z, Vocka M, Zima T, Macurek L, Kleibl Z; CZECANCA consortium. Soukupova J, et al. Among authors: stolarova l. Cancer Med. 2024 Aug;13(16):e70103. doi: 10.1002/cam4.70103. Cancer Med. 2024. PMID: 39149814 Free PMC article.
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: stolarova l. Cancers (Basel). 2020 Apr 13;12(4):956. doi: 10.3390/cancers12040956. Cancers (Basel). 2020. PMID: 32295079 Free PMC article.
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.
Vocka M, Zimovjanova M, Bielcikova Z, Tesarova P, Petruzelka L, Mateju M, Krizova L, Kotlas J, Soukupova J, Janatova M, Zemankova P, Kleiblova P, Novotny J, Konopasek B, Chodacka M, Brychta M, Sochor M, Smejkalova-Musilova D, Cmejlova V, Kozevnikovova R, Miskarova L, Argalacsova S, Stolarova L, Lhotova K, Borecka M, Kleibl Z. Vocka M, et al. Among authors: stolarova l. Cancers (Basel). 2019 May 28;11(6):738. doi: 10.3390/cancers11060738. Cancers (Basel). 2019. PMID: 31141992 Free PMC article.
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J, Zemankova P, Lhotova K, Janatova M, Borecka M, Stolarova L, Lhota F, Foretova L, Machackova E, Stranecky V, Tavandzis S, Kleiblova P, Vocka M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z. Soukupova J, et al. Among authors: stolarova l. PLoS One. 2018 Apr 12;13(4):e0195761. doi: 10.1371/journal.pone.0195761. eCollection 2018. PLoS One. 2018. PMID: 29649263 Free PMC article.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A, Manoukian S, Bonanni B; ENIGMA Consortium; Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O, Vega A, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA. Burke LJ, et al. Among authors: stolarova l. Hum Mutat. 2018 Dec;39(12):2025-2039. doi: 10.1002/humu.23652. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30204945 Free PMC article.
13 results