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Items: 1 to 20 of 64

1.

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 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]

PMID:
31050813
2.

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A, Fostira F, Kalfakakou D, Apostolou P, Konstantopoulou I, Kroupis C, Papavassiliou AG, Kleibl Z, Stratikos E, Voutsinas GE, Yannoukakos D.

Hum Mutat. 2019 May;40(5):631-648. doi: 10.1002/humu.23728. Epub 2019 Mar 9.

PMID:
30851065
3.

Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations.

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.

Cancer Manag Res. 2019 Jan 10;11:599-609. doi: 10.2147/CMAR.S185352. eCollection 2019.

4.

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.

5.

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
6.

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
7.

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B.

PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016 Aug.

8.

Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management.

Kleibl Z, Kristensen VN.

Breast. 2016 Aug;28:136-44. doi: 10.1016/j.breast.2016.05.006. Epub 2016 Jun 16. Review.

PMID:
27318168
9.

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
10.

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
11.

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
13.

[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
14.

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
15.

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.

16.

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.

17.

Determining Omics spatiotemporal dimensions using exciting new nanoscopy techniques to assess complex cell responses to DNA damage: part B--structuromics.

Falk M, Hausmann M, Lukášová E, Biswas A, Hildenbrand G, Davídková M, Krasavin E, Kleibl Z, Falková I, Ježková L, Štefančíková L, Ševčík J, Hofer M, Bačíková A, Matula P, Boreyko A, Vachelová J, Michaelidisová A, Kozubek S.

Crit Rev Eukaryot Gene Expr. 2014;24(3):225-47. Review.

PMID:
25072148
18.

Determining Omics spatiotemporal dimensions using exciting new nanoscopy techniques to assess complex cell responses to DNA damage: part A--radiomics.

Falk M, Hausmann M, Lukášová E, Biswas A, Hildenbrand G, Davídková M, Krasavin E, Kleibl Z, Falková I, Ježková L, Štefančíková L, Ševčík J, Hofer M, Bačíková A, Matula P, Boreyko A, Vachelová J, Michaelidesová A, Kozubek S.

Crit Rev Eukaryot Gene Expr. 2014;24(3):205-23. Review.

PMID:
25072147
19.

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis.

Rosmarin D, Palles C, Church D, Domingo E, Jones A, Johnstone E, Wang H, Love S, Julier P, Scudder C, Nicholson G, Gonzalez-Neira A, Martin M, Sargent D, Green E, McLeod H, Zanger UM, Schwab M, Braun M, Seymour M, Thompson L, Lacas B, Boige V, Ribelles N, Afzal S, Enghusen H, Jensen SA, Etienne-Grimaldi MC, Milano G, Wadelius M, Glimelius B, Garmo H, Gusella M, Lecomte T, Laurent-Puig P, Martinez-Balibrea E, Sharma R, Garcia-Foncillas J, Kleibl Z, Morel A, Pignon JP, Midgley R, Kerr D, Tomlinson I.

J Clin Oncol. 2014 Apr 1;32(10):1031-9. doi: 10.1200/JCO.2013.51.1857. Epub 2014 Mar 3. Review.

20.

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.

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