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63 results

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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. Among authors: soukupova j. 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.
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, … See abstract for full author list ➔ Yang X, et al. Among authors: soukupova j. J Clin Oncol. 2020 Mar 1;38(7):674-685. doi: 10.1200/JCO.19.01907. Epub 2019 Dec 16. J Clin Oncol. 2020. PMID: 31841383 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: soukupova j. 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
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Boonen RACM, Knaup SC, Menafra R, Braspenning ME, Rother MB, Kleiblova P, Janatova M, Ruano D, Hu C, Huang H, Joseph V, Conry M, Heijl S, Vroling B, Goeman JJ, Varga M; CZECANCA consortium; Richardson ME, Kloet SL, Couch FJ, Vreeswijk MPG, van Attikum H. Boonen RACM, et al. Nat Commun. 2026 Jan 19;17(1):775. doi: 10.1038/s41467-025-67252-z. Nat Commun. 2026. PMID: 41554690 Free PMC article.
Genetic Predisposition to Male Breast Cancer.
Janatová M, Borecká M, Zemánková P, Matějková K, Nehasil P, Černá L, Černá M, Dušková P, Doležalová T, Foretová L, Havránek O, Házová J, Horáčková K, Hovhannisyan M, Hrušková L, Chvojka Š, Janíková M, Kalousová M, Kosařová M, Koudová M, Krhutová V, Krulišová V, Macháčková E, Michalovská R, Němcová B, Novotný J, Šafaříková M, Šťastná B, Stránecký V, Šubrt I, Tavandzis S, Vlčková Z, Vočka M, Vrtěl R, Zima T, Soukupová J, Kleiblová P, Kleibl Z. Janatová M, et al. Among authors: soukupova j. Folia Biol (Praha). 2024;70(5-6):274-284. doi: 10.14712/fb2024070050274. Folia Biol (Praha). 2024. PMID: 39889220 Free article.
COVID-19 crisis interlinkage with past pandemics and their effects on food security.
Roubík H, Lošťák M, Ketuama CT, Soukupová J, Procházka P, Hruška A, Hakl J, Pacek L, Karlík P, Menšíková LK, Jurasová V, Ogbu CA, Hejcman M. Roubík H, et al. Among authors: soukupova j. Global Health. 2023 Jul 31;19(1):52. doi: 10.1186/s12992-023-00952-7. Global Health. 2023. PMID: 37525178 Free PMC article. Review.
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.
Dicks EM, Tyrer JP, Ezquina S, Jones M, Baierl J, Peng PC, Diaz M, Goode E, Winham SJ, Dörk T, Gorp TV, Fazio A, Bowtell DDL, Garsed DW, Odunsi K, Moysich K, Pavanello M, Fostira F, Webb PM, Soukupová J, Cohen PA, Sieh W, Fortner RT, Ricker C, Karlan B, Campbell I, Brenton JD, Ramus SJ, Gayther SA, Pharoah PDP. Dicks EM, et al. Among authors: soukupova j. Eur J Hum Genet. 2025 Mar;33(3):297-303. doi: 10.1038/s41431-025-01786-0. Epub 2025 Feb 12. Eur J Hum Genet. 2025. PMID: 39939714 Free PMC article.
63 results