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102 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
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. 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: soukupova j. Klin Onkol. 2024;37(4):292-299. doi: 10.48095/ccko2024292. Klin Onkol. 2024. PMID: 39174333 English.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
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; Consortium of Investigators of Modifiers of BRCA1/2; Evidence-based Network for the … See abstract for full author list ➔ O'Mahony DG, et al. Among authors: soukupova j. Br J Cancer. 2023 Jun;128(12):2283-2294. doi: 10.1038/s41416-023-02263-5. Epub 2023 Apr 19. Br J Cancer. 2023. PMID: 37076566 Free PMC article.
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.
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: soukupova j. Breast. 2024 Jun;75:103721. doi: 10.1016/j.breast.2024.103721. Epub 2024 Mar 25. Breast. 2024. PMID: 38554551 Free PMC article.
102 results