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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 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.
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: krutilkova v. Cancer Med. 2024 Aug;13(16):e70103. doi: 10.1002/cam4.70103. Cancer Med. 2024. PMID: 39149814 Free PMC article.
The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024).
Kleiblová P, Novotný J, Cibula D, Curtisová V, Dubová O, Foretová L, Germanová A, Janatová M, Havránek O, Hojsáková M, Hudcová M, Koudová M, Krutílková V, Palacova M, Paulich S, Petrakova K, Presl J, Puchmajerová A, Soukupová J, Šenkeříková M, Šimková Z, Štěpánková H, Šubrt I, Tachecí I, Tesner P, Urban O, Veselá K, Vilímová Š, Vlčková Z, Vočka M, Weinberger V, Zikán M, Zimovjanová M, Kleibl Z. Kleiblová P, et al. Among authors: krutilkova v. Klin Onkol. 2024;38(4):292-299. doi: 10.48095/ccko2024292. Klin Onkol. 2024. PMID: 39174333 English.
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: krutilkova v. Breast. 2024 Jun;75:103721. doi: 10.1016/j.breast.2024.103721. Epub 2024 Mar 25. Breast. 2024. PMID: 38554551 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: krutilkova v. 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.
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.
[Li-Fraumeni syndrome].
Plevová P, Krutílková V, Petráková K, Palácová M, Foretová L, Novotný J. Plevová P, et al. Among authors: krutilkova v. Klin Onkol. 2009;22 Suppl:S20-2. Klin Onkol. 2009. PMID: 19764388 Review. Czech. No abstract available.
[Gorlin syndrome].
Plevová P, Krutílková V, Puchmajerová A, Foretová L. Plevová P, et al. Among authors: krutilkova v. Klin Onkol. 2009;22 Suppl:S34-5. Klin Onkol. 2009. PMID: 19764393 Review. Czech. No abstract available.
[Medical genetics in reproductive medicine].
Macek M, Vilímová S, Potuzníková P, Yurov Y, Vorsanova S, Diblík J, Krebsová A, Machatková M, Koudová M, Alánová R, Matĕjcková M, Hladíková E, Broucková M, Hüttelová R, Vincenciová R, Paulasová P, Brandjeská M, Uhrová E, Kratĕnová A, Smetanová I, Novotná D, Chudoba D, Kulovaný E, Krutílková V, Hromadníková I, Mardesic T, Macek M Jr. Macek M, et al. Among authors: krutilkova v. Cas Lek Cesk. 2002;141(1):28-34. Cas Lek Cesk. 2002. PMID: 11899543 Czech.
21 results