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Konečná B, Krutílková V, Kleiblová P, Macůrek L, Kleibl Z. Změny v přístupu k
analýze a hodnocení dědičných patogenních variant TP53.
Klin Onkol. 2025;38(5):358-367.
Kleiblova P, Cerna M, Zemankova P, Matejkova K, Nehasil P, Hojny J, Horackova K,
Janatova M, Soukupova J, Stastna B, Kleibl Z. Parallel DNA/RNA NGS
using identical target enrichment panel in the analysis of hereditary
cancer predisposition. Folia Biol 2024; 70: 62-73.
Janatová M, Chvojka Š, Macháčková E, Soukupová J, Zemánková P, Nehasil P,
Zavoral T, Hrušková L, Janíková M, Kozáková K, Lhota F, Tavandzis S,
Kleiblová P, Kleibl Z. Classification of germline variants identified
in cancer predisposition genetic testing – consensus of the CZECANCA
consortium. Klin Onkol 2023; 36(6): 431-439.
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. Validation of CZECANCA
(CZEch CAncer paNel for Clinical Application) for targeted NGS-based
analysis of hereditary cancer syndromes. PLoS One. 2018;13(4):e0195761.
Soukupová J, Zemánková P, Kleiblová P, Janatová M, Kleibl Z. CZECANCA: CZEch
CAncer paNel for Clinical Application – návrh a příprava cíleného
sekvenačního panelu pro identifikaci nádorové predispozice u rizikových
osob v České republice. Klin Onkol. 2016;29 Suppl 1:S46-54.
Czech national guidelines for germline genetic testing and recommended follow-up for pathogenic variant carriers
CZECANCA consortium publications
Billaud A, Figlioli G, Mooser C, Casamassima I, Azzoni V, Srivatsa J, Colombo M,
Caleca L, Ahearn TU, Andrulis IL, Antoniou AC, Beckmann MW, Behrens S,
Bermisheva M, Bogdanova NV, Bolla MK, Bonanni B, Brüning T, Camp NJ,
Campbell A, Castelao JE, Cessna MH, Chang-Claude J; NBCS Collaborators;
Czene K, Dennis J, Devilee P, Dörk T, Dunning AM, Eriksson M, Evans DG,
Fasching PA, Figueroa JD, Gabrielson M, Gago-Dominguez M, González-Neira A,
Guénel P, Hadjisavvas A, Hahnen E, Hamann U, Hillemanns P, Hollestelle A,
Hooning MJ, Hoppe R, Howell A; kConFab Investigators; Jakubowska A,
Kristensen VN, Lubiński J, Lush M, Manoukian S, Mavroudis D, Milne RL,
Mulligan AM, Newman WG, Obi N, Panayiotidis MI, Pita G, Rashid MU, Rhenius V,
Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Southey MC, Spurdle AB,
Tomlinson I, Truong T, Wang Q, Wendt C, Auer PL, Boddicker NJ, Bodelon C,
Burnside ES, Chen F, Couch FJ, Domchek SM, Eliassen HA, Haiman C, Hodge JM,
Hu C, Huang H, Lindstrom S, Martinez ME, Nathanson KL, Neuhausen SL,
O'Brien KM, Olson JE, Palmer JR, Patel AV, Ruddy KJ, Sandler DP, Teras LR,
Weinberg CR, Weitzel JN, Winham SJ, Yadav S, Yao S, Zirpoli G, Janatova M,
Kleibl Z, Kleiblova P, Soukupova J; CZECANCA consortium; Zhao Q, Devereux L,
James PA, Campbell IG, Nguyen-Dumont T, Dowty JG, Andrieu N, Lesueur F,
Stoppa-Lyonnet D; GENESIS; Hoya M, Radice P, Sørensen CS, Peterlongo P.
Large-scale meta-analysis and precision functional assays identify
FANCM regions in which PTVs confer different risks for ER- negative and
triple-negative breast cancer. Breast. 2025 Oct 30;85:104619.
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. A comprehensive study evaluating
germline FANCG variants in predisposition to breast and ovarian cancer.
Cancer Med. 2024 Aug;13(16):e70103.
Palek M, Palkova N; consortium CZECANCA; Kleiblova P, Kleibl Z, Macurek L.
RAD18 directs DNA double-strand break repair by homologous recombination
to post-replicative chromatin. Nucleic Acids Res. 2024 Jun 13:gkae499.
Hovhannisyan M, Zemankova P, Nehasil P, Matejkova K, Borecka M, Cerna M, Dolezalova T,
Dvorakova L, Foretova L, Horackova K, Jelinkova S, Just P, Kalousova M, Kral J,
Machackova E, Nemcova B, Safarikova M, Springer D, Stastna B, Tavandzis S,
Vocka M, Zima T, Soukupova J, Kleiblova P, Ernst C, Kleibl Z, Janatova M.
Population-specific validation and comparison of the performance of 77- and
313-variant polygenic risk scores for breast cancer risk prediction.
Cancer. 2024;130(17):2978-2987.
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. 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.
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 A, Hahnen E, Claes KBM,
Ngeow J, Momozawa Y, James PA, Couch FJ, Macurek L, Kleibl Z.
ENIGMA CHEK2gether project: a comprehensive study identifies
functionally-impaired CHEK2 germline missense variants associated with
increased breast cancer risk. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050.
doi: 10.1158/1078-0432.CCR-23-0212.
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, CZECANCA consortium, Novotny J, Sperl J, Borecka M,
Jelinkova S, Vocka M, Janatova M, Kleiblova P, Kleibl Z, Jirsa M,
Soukupova J. Low Frequency of Cancer-Predisposition Gene Mutations in
Liver Transplant Candidates with Hepatocellular Carcinoma.
Cancers. 2023; 15(1):201.
Soukupova J, Zemankova P, Nehasil P, Kleibl Z; CZECANCA consortium.
Letter to the Editor: Comments on ERCC3 as a new ovarian cancer
susceptibility gene. Eur J Cancer. 2021 Apr 21:S0959-8049(21)00181-7.
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. Multigene Panel
Germline Testing of 1333 Czech Patients with Ovarian Cancer.
Cancers (Basel). 2020;12(4):956.
Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M,
Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S,
Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z. Přínos
masivního paralelního sekvenování pro diagnostiku dědičných forem nádorů
ovaria v České republice. Klin Onkol. 2019;32(Supplementum2):72-78.
Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O,
Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J,
Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M,
Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S,
Kmoch S, Macůrek L, Kleibl Z. Dědičné mutace v genu CHEK2 jako příčina
dispozice k nádorům prsu – typy mutací, jejich biologická a klinická
relevance. Klin Onkol. 2019;32(Supplementum2):36-50.
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. Identification of deleterious germline CHEK2
mutations and their association with breast and ovarian cancer.
Int J Cancer. 2019;145(7):1782-1797.
Other publications with CZECANCA panel analysis Hovhannisyan M, Zemankova P, Nehasil P, Matejkova K, Borecka M, Cerna M, Dolezalova T, Dvorakova L, Foretova L, Horackova K, Jelinkova S, Just P, Kalousova M, Kral J, Machackova E, Nemcova B, Safarikova M, Springer D, Stastna B, Tavandzis S, Vocka M, Zima T, Soukupova J, Kleiblova P, Ernst C, Kleibl Z, Janatova M. Population-specific validation and comparison of the performance of 77 and 313-variant polygenic risk scores for breast cancer risk prediction. Cancer. 2024 May 8. doi: 10.1002/cncr.35337. 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. Germline multigene panel testing of patients with endometrial cancer. Oncol Lett 2023. 25(6): 216. Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM. Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients. Cancers. 2021; 13(17):4430. Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Valle JD, Diez O, Consortium E, Eon-Marchais S, Fostira F, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa- Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. Cancers (Basel). 2020;12(2). Burocziova M, Burdova K, Martinikova AS, Kasparek P, Kleiblova P, Danielsen SA, Borecka M, Jenikova G, Janečková L, Pavel J, Zemankova P, Schneiderova M, Schwarzova L, Ticha I, Sun XF, Jiraskova K, Liska V, Vodickova L, Vodicka P, Sedlacek R, Kleibl Z, Lothe RA, Korinek V, Macurek L. Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon. Cell Death Dis. 2019;10(11):818. 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. Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers. Cancers (Basel). 2019; 11(6):738. Lovecek M, Janatova M, Skalicky P, Zemanek T, Havlik R, Ehrmann J, Strouhal O, Zemankova P, Lhotova K, Borecka M, Soukupova J, Svebisova H, Soucek P, Hlavac V, Kleibl Z, Neoral C, Melichar B, Mohelnikova-Duchonova B. Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations. Cancer Manag Res. 2019;11:599-609. 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. BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Hum Mutat. 2018 Dec;39(12):2025-2039. |
