Publikace LOG (posledních 5 let)

 

  1. 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. (IF2022 =11.5)
  2. Hovhannisyan M, Kleiblová P, Nehasil P, Soukupová J, Zemánková P, Kleibl Z, Janatová M. Skóre polygenního rizika (PRS) a jeho potenciál pro stratifikaci rizika karcinomu prsu. Klin Onkol. 2023 Spring;36(3):198-205. doi: 10.48095/ccko2023198. (NO IF)
  3. 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. (IF2022 =2.9)
  4. O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Andrulis IL, Sharma P, Daly MB, Hake CR, Weitzel JN, Jakubowska A, Godwin AK, Arason A, Bane A, Simard J, Soucy P, Caligo MA, Mai PL, Claes KBM, Teixeira MR, Chung WK, Lazaro C, Hulick PJ, Toland AE, Pedersen IS; HEBON Investigators; Neuhausen SL, Vega A, de la Hoya M, Nevanlinna H, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM, Osorio A, García MJ, Karlan BY; GEMO Study Collaborators; De Fazio A, Bowtell D; AOCS Group; McGuffog L, Leslie G, Parsons MT, Dörk T, Speith LM, Dos Santos ES, da Costa AABA, Radice P, Peterlongo P, Papi L, Engel C, Hahnen E, Schmutzler RK, Wappenschmidt B, Easton DF, Tischkowitz M, Singer CF, Tan YY, Whittemore AS, Sieh W, Brenton JD, Yannoukakos D, Fostira F, Konstantopoulou I, Soukupova J, Vocka M; CZECANCA Consortium; Chenevix-Trench G, Pharoah PDP, Antoniou AC, Goldgar DE, Spurdle AB, Michailidou K, CIMBA, ENIGMA. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. Br J Cancer. 2023 Jun;128(12):2283-2294. doi: 10.1038/s41416-023-02263-5. (IF2022=8.8)
  5. Otahalova B, Volkova Z, Soukupova J, Kleiblova P, Janatova M, Vocka M, Macurek L, Kleibl Z. Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex. Int J Mol Sci. 2023; 24(6):5612. (IF2022 =5.6)
  6. 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 CZECANCA, 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. (IF2022 =5.2)
  7. Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN; KConFab Investigators; HEBON Investigators, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB; OCAC Consortium; CIMBA Consortium, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 May;30(5):630-631 (IF2022 =5.2)
  8. Hojny J, Michalkova R, Krkavcova E, Bui QH, Bartu M, Nemejcova K, Kalousova M, Kleiblova P, Dundr P, Struzinska I. Comprehensive quantitative analysis of alternative splicing variants reveals the HNF1B mRNA splicing pattern in various tumour and non-tumour tissues. Sci Rep. 2022 Jan 7;12(1):199. doi: 10.1038/s41598-021-03989-z. (IF2022 =4.6)
  9. 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. (IF2021 =6.575)
  10. Bezdicka M, Kleiblova P, Soucek J, Borecka M, El-Lababidi E, Smrz D, Rataj M, Sumnik Z, Malikova J, Soucek O.Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study. Hormones (Athens). 2021 Dec;20(4):803-812. doi: 10.1007/s42000-021-00299-x. PMID: 34142359
  11. Soukupova J, Nehasil P, Zemankova P, Kleibl Z, CZECANCA consortium. Letter to the Editor: Comments on ERCC3 as a new ovarian cancer susceptibility gene. Eur J Cancer. 2021 Jun;150:278-280. (IF2021 =10.002)
  12. Soukupová J, Lhotová K, Janatová M, Kleiblová P, Vočka M, Foretová L, Zikán M, Kleibl Z. Zárodečné mutace v genech RAD51C a RAD51D a dědičná predispozice ke vzniku karcinomu ovaria. Klin Onkol. 2021 Winter;34(1):26-32. doi: 10.48095/ccko202126. (NO IF)
  13. Stolarova L, Kleiblova P, Janatova M, Soukupova J, Zemankova P, Macurek L, Kleibl Z. CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate. Cells 2020, 9, 2675. (IF2020 =6.663)
  14. Slaba K, Noskova H, Vesela P, Tuckova J, Jicinska H, Honzik T, Hansikova H, Kleiblova P, Stourac P, Jabandziev P, Slaby O, Prochazkova D. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. Front Genet. 2020 Oct 7;11:561054. doi:10.3389/fgene.2020.561054. eCollection 2020.PMID: 33133147 (IF2020=2.885)
  15. Stolarova L, Jelinkova S, Storchova R, Machackova E, Zemankova P, Vocka M, Kodet O, Kral J, Cerna M, Volkova Z, Janatova M, Soukupova J, Stranecky V, Dundr P, Foretova L, Macurek L, Kleiblova P, Kleibl Z. Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. Biomedicines 2020;8(10):404. (IF2020 =6.081)
  16. 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):E956. (IF2020 =6.639)
  17. 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 Jan 26;12(2). pii: E292. doi: 10.3390/cancers12020292. (IF2020 =6.639)
  18. Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning MA, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank AM, Adlard J, Aittomaki K, Andrulis LI, Ang P, Barwell J, Bernstein LJ, Bobolis K, Borg A, Blomqvist C, Claes BMK, Concannon P, Cuggia A, Culver OJ, Damiola F, de Pauw A, Diez O, Dolinsky SJ, Domchek S, Engel C, Evans Gareth D, Fostira F, Garber J, Golmard L, Goode LE, Gruber BS, Hahnen E, Hake C, Heikkinen T, Hurley EJ, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee SGA, Lesueur F, Maher RE, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib Aishah N, Moilanen J, Nathanson LK, Neuhausen S, Ng Sze P, Nguyen-Dumont T, Nielsen MS, Obermair F, Offit K, Olopade IO, Ottini L, Penkert J, Pylkas K, Radice P, Ramus JS, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte A, Slavin T, Soukupova J, Tondini C, Trainer HA, Unzeitig G, Usha L, Hansen van Overeem T, Whitworth J, Wood M, Yip Har C, Yoon S, Yussuf A, Zogopoulos G, Goldgar D, Hopper LJ, Chenevix-Trench G, Pharoah P, George H.LS, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, Nevanlinna H, Schmutzler R, Teo S, Robson M, Pal T, Couch F, Weitzel NJ, Elliott A, Southey M, Winqvist R, Easton FD, Foulkes DW, Antoniou CA, Tischkowitz M. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020;38(7):674-685. (IF2020 =44.544)
  19. Walker LC, Lattimore VL, Kvist A, Kleiblova P, Zemankova P, de Jong L, Wiggins GAR, Hakkaart C, Cree SL, Behar R, Houdayer C; kConFab Investigators; Parsons MT, Kennedy MA, Spurdle AB, de la Hoya M. Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification. Front Genet. 2019 Nov 19;10:1139. doi: 10.3389/fgene.2019.01139. eCollection 2019. PMID: 31803232 (IF2019=3.260)
  20. Ticha I, Hojny J, Michalkova R, Kodet O, Krkavcova E, Hajkova N, Nemejcova K, Bartu M, Jaksa R, Dura M, Kanwal M, Martinikova AS, Macurek L, Zemankova P, Kleibl Z, Dundr P. A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants. Sci Rep. 2019 Nov 19;9(1):17050. (IF2019 =3.998)
  21. 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 Oct 28;10(11):818. (IF2019 =6.309)
  22. 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. doi: 10.14735/amko2019S72. PMID: 31409082 (NO IF)
  23. 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. doi: 10.14735/amko2019S36. PMID: 31409080 (NO IF)
  24. Foretová L, Navrátilová M, Svoboda M, Vašíčková P, Sťahlová EH, Házová J, Kleiblová P, Kleibl Z, Macháčková E, Palácová M, Petráková K. Doporučení pro sledování žen se vzácnějšími genetickými příčinami nádorů prsu a ovarií. Klin Onkol. 2019;32(Supplementum2):6-13. doi: 10.14735/amko2019S6. PMID: 31409076 (NO IF)
  25. 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. 2019; 11(6):738. (IF2019 6.126)
  26. 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, Tavanzis 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. (IF2019= 5.145).
  27. Delimitsou A, Fostira F, Kalfakakou D, Apostolou P, Konstantopoulou I, Kroupis C, Papavassiliou AG, Kleibl Z, Stratikos E, Voutsinas GE, Yannoukakos D. Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system. Hum Mutat. 2019; 40(5):631-648. (IF2019= 4.124).
  28. 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. (IF2019= 2.886)

 

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