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Items: 36

1.

Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.

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.

Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.

PMID:
31409082
2.

Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.

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.

Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.

PMID:
31409080
3.

Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.

Foretová L, Navrátilová M, Svoboda M, Vašíčková P, Sťahlová EH, Házová J, Kleiblová P, Kleibl Z, Macháčková E, Palácová M, Petráková K.

Klin Onkol. 2019 Summer;32(Supplementum2):6-13. doi: 10.14735/amko2019S6.

PMID:
31409076
4.

Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.

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.

Cancers (Basel). 2019 May 28;11(6). pii: E738. doi: 10.3390/cancers11060738.

5.

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.

Int J Cancer. 2019 Oct 1;145(7):1782-1797. doi: 10.1002/ijc.32385. Epub 2019 May 20.

PMID:
31050813
6.

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

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.

PLoS One. 2018 Apr 12;13(4):e0195761. doi: 10.1371/journal.pone.0195761. eCollection 2018.

7.

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB.

JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26.

8.

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

Hojny J, Zemankova P, Lhota F, Sevcik J, Stranecky V, Hartmannova H, Hodanova K, Mestak O, Pavlista D, Janatova M, Soukupova J, Vocka M, Kleibl Z, Kleiblova P.

Gene. 2017 Dec 30;637:41-49. doi: 10.1016/j.gene.2017.09.025. Epub 2017 Sep 14.

PMID:
28919163
9.

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

Zemankova P, Lhota F, Kleiblova P, Soukupova J, Vocka M, Janatova M, Kleibl Z.

Clin Genet. 2016 Oct;90(4):387-9. doi: 10.1111/cge.12842. No abstract available.

PMID:
27659787
10.

The c.657del5 variant in the NBN gene predisposes to pancreatic cancer.

Borecka M, Zemankova P, Lhota F, Soukupova J, Kleiblova P, Vocka M, Soucek P, Ticha I, Kleibl Z, Janatova M.

Gene. 2016 Aug 10;587(2):169-72. doi: 10.1016/j.gene.2016.04.056. Epub 2016 May 2.

PMID:
27150568
11.

Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic.

Borecka M, Zemankova P, Vocka M, Soucek P, Soukupova J, Kleiblova P, Sevcik J, Kleibl Z, Janatova M.

Cancer Genet. 2016 May;209(5):199-204. doi: 10.1016/j.cancergen.2016.03.003. Epub 2016 Apr 5.

PMID:
27106063
12.

Inhibition of WIP1 phosphatase sensitizes breast cancer cells to genotoxic stress and to MDM2 antagonist nutlin-3.

Pechackova S, Burdova K, Benada J, Kleiblova P, Jenikova G, Macurek L.

Oncotarget. 2016 Mar 22;7(12):14458-75. doi: 10.18632/oncotarget.7363.

13.

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

Lhota F, Zemankova P, Kleiblova P, Soukupova J, Vocka M, Stranecky V, Janatova M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z.

Clin Genet. 2016 Oct;90(4):324-33. doi: 10.1111/cge.12748. Epub 2016 Mar 4.

PMID:
26822949
15.

[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic].

Janatová M, Borecká M, Soukupová J, Kleiblová P, Stříbrná J, Vočka M, Zemánková P, Panczak A, Veselá K, Souček P, Foretová L, Kleibl Z.

Klin Onkol. 2016;29 Suppl 1:S31-4. Czech.

PMID:
26691940
16.

Expression, Epigenetic and Genetic Changes of HNF1B in Endometrial Lesions.

Němejcová K, Tichá I, Kleiblová P, Bártů M, Cibula D, Jirsová K, Dundr P.

Pathol Oncol Res. 2016 Jul;22(3):523-30. doi: 10.1007/s12253-015-0037-2. Epub 2015 Dec 19.

PMID:
26685938
17.

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.

Meulendijks D, Henricks LM, Sonke GS, Deenen MJ, Froehlich TK, Amstutz U, Largiadèr CR, Jennings BA, Marinaki AM, Sanderson JD, Kleibl Z, Kleiblova P, Schwab M, Zanger UM, Palles C, Tomlinson I, Gross E, van Kuilenburg AB, Punt CJ, Koopman M, Beijnen JH, Cats A, Schellens JH.

Lancet Oncol. 2015 Dec;16(16):1639-50. doi: 10.1016/S1470-2045(15)00286-7. Epub 2015 Oct 23. Review.

PMID:
26603945
18.

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.

Havranek O, Kleiblova P, Hojny J, Lhota F, Soucek P, Trneny M, Kleibl Z.

PLoS One. 2015 Oct 27;10(10):e0140819. doi: 10.1371/journal.pone.0140819. eCollection 2015.

19.

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.

Janatova M, Soukupova J, Stribrna J, Kleiblova P, Vocka M, Boudova P, Kleibl Z, Pohlreich P.

PLoS One. 2015 Jun 9;10(6):e0127711. doi: 10.1371/journal.pone.0127711. eCollection 2015.

20.

Atypical Polypoid Adenomyoma of the Uterus: An Immunohistochemical and Molecular Study of 21 Cases.

Němejcová K, Kenny SL, Laco J, Škapa P, Staněk L, Zikán M, Kleiblová P, McCluggage WG, Dundr P.

Am J Surg Pathol. 2015 Aug;39(8):1148-55. doi: 10.1097/PAS.0000000000000428.

PMID:
25828387
21.

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

Janatova M, Kleibl Z, Stribrna J, Panczak A, Vesela K, Zimovjanova M, Kleiblova P, Dundr P, Soukupova J, Pohlreich P.

Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2323-32. doi: 10.1158/1055-9965.EPI-13-0745-T. Epub 2013 Oct 17.

22.

Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint.

Kleiblova P, Shaltiel IA, Benada J, Ševčík J, Pecháčková S, Pohlreich P, Voest EE, Dundr P, Bartek J, Kleibl Z, Medema RH, Macurek L.

J Cell Biol. 2013 May 13;201(4):511-21. doi: 10.1083/jcb.201210031. Epub 2013 May 6.

23.

Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.

Sevcik J, Falk M, Macurek L, Kleiblova P, Lhota F, Hojny J, Stefancikova L, Janatova M, Bartek J, Stribrna J, Hodny Z, Jezkova L, Pohlreich P, Kleibl Z.

Cell Signal. 2013 May;25(5):1186-93. doi: 10.1016/j.cellsig.2013.02.008. Epub 2013 Feb 14.

PMID:
23416467
24.

Contribution of the β-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity.

Fidlerova J, Kleiblova P, Kormunda S, Novotny J, Kleibl Z.

Pharmacol Rep. 2012;64(5):1234-42.

25.

[The clinical importance of a genetic analysis of moderate-risk cancer susceptibility genes in breast and other cancer patients from the Czech Republic].

Pohlreich P, Kleibl Z, Kleiblová P, Janatová M, Soukupová J, Macháčková E, Házová J, Vašíčková P, Sťahlová Hrabincová E, Navrátilová M, Svoboda M, Foretová L.

Klin Onkol. 2012;25 Suppl:S59-66. Review. Czech.

PMID:
22920209
26.

Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women.

Mateju M, Kleiblova P, Kleibl Z, Janatova M, Soukupova J, Ticha I, Novotny J, Pohlreich P.

Breast Cancer Res Treat. 2012 Jun;133(2):809-11. doi: 10.1007/s10549-012-2049-x. Epub 2012 Apr 11. No abstract available.

PMID:
22491912
27.

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.

Sevcik J, Falk M, Kleiblova P, Lhota F, Stefancikova L, Janatova M, Weiterova L, Lukasova E, Kozubek S, Pohlreich P, Kleibl Z.

Cell Signal. 2012 May;24(5):1023-30. doi: 10.1016/j.cellsig.2011.12.023. Epub 2012 Jan 3.

PMID:
22245140
28.

Expression of adipokines and estrogen receptors in adipose tissue and placenta of patients with gestational diabetes mellitus.

Kleiblova P, Dostalova I, Bartlova M, Lacinova Z, Ticha I, Krejci V, Springer D, Kleibl Z, Haluzik M.

Mol Cell Endocrinol. 2010 Jan 15;314(1):150-6. doi: 10.1016/j.mce.2009.08.002. Epub 2009 Aug 12.

PMID:
19682537
29.

Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.

Fidlerova J, Kleiblova P, Bilek M, Kormunda S, Formankova Z, Novotny J, Kleibl Z.

Cancer Chemother Pharmacol. 2010 Mar;65(4):661-9. doi: 10.1007/s00280-009-1071-0. Epub 2009 Aug 1.

PMID:
19649633
31.

Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity.

Ticha I, Kleiblova P, Fidlerova J, Novotny J, Pohlreich P, Kleibl Z.

Cancer Chemother Pharmacol. 2009 Aug;64(3):615-8. doi: 10.1007/s00280-009-0970-4. Epub 2009 Mar 14.

PMID:
19288105
32.

Long-term BRCA1 down-regulation by small hairpin RNAs targeting the 3' untranslated region.

Vondruskova E, Malik R, Sevcik J, Kleiblova P, Kleibl Z.

Neoplasma. 2008;55(2):130-7.

PMID:
18237251
33.

Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations.

Kleibl Z, Havranek O, Novotny J, Kleiblova P, Soucek P, Pohlreich P.

Breast Cancer Res Treat. 2008 Nov;112(1):159-64. Epub 2007 Dec 4.

PMID:
18058223
34.

Changes of endocrine function of adipose tissue in anorexia nervosa: comparison of circulating levels versus subcutaneous mRNA expression.

Dolezalova R, Lacinova Z, Dolinkova M, Kleiblova P, Haluzikova D, Housa D, Papezova H, Haluzik M.

Clin Endocrinol (Oxf). 2007 Nov;67(5):674-8.

PMID:
17953628
35.
36.

The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic.

Kleibl Z, Novotny J, Bezdickova D, Malik R, Kleiblova P, Foretova L, Petruzelka L, Ilencikova D, Cinek P, Pohlreich P.

Breast Cancer Res Treat. 2005 Mar;90(2):165-7.

PMID:
15803363

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