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Items: 1 to 20 of 45

1.

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.

2.

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.

3.

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.

4.

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
5.

[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
6.

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
7.

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
8.

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Soukupova J, Pohlreich P, Seemanova E.

Neuromolecular Med. 2011 Sep;13(3):204-11. doi: 10.1007/s12017-011-8152-z. Epub 2011 Aug 11.

PMID:
21833744
9.

CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.

Mohelnikova-Duchonova B, Havranek O, Hlavata I, Foretova L, Kleibl Z, Pohlreich P, Soucek P.

Cancer Epidemiol. 2010 Oct;34(5):656-8. doi: 10.1016/j.canep.2010.06.008.

PMID:
20643596
10.

The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development.

Kleibl Z, Havranek O, Kormunda S, Novotny J, Foretova L, Machackova E, Soukupova J, Janatova M, Tavandzis S, Pohlreich P.

J Cancer Res Clin Oncol. 2011 Feb;137(2):331-8. doi: 10.1007/s00432-010-0889-5. Epub 2010 Apr 27.

PMID:
20422428
11.

Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.

Mateju M, Stribrna J, Zikan M, Kleibl Z, Janatova M, Kormunda S, Novotny J, Soucek P, Petruzelka L, Pohlreich P.

Neoplasma. 2010;57(3):280-5.

PMID:
20353281
12.

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene.

Ticha I, Kleibl Z, Stribrna J, Kotlas J, Zimovjanova M, Mateju M, Zikan M, Pohlreich P.

Breast Cancer Res Treat. 2010 Nov;124(2):337-47. doi: 10.1007/s10549-010-0745-y. Epub 2010 Feb 5.

PMID:
20135348
13.

[Prerequisites for preimplantation genetic diagnosis (PGD in carriers of mutations responsible for hereditary cancers].

Hüttelová R, Kleibl Z, Rezátová J, Krutílková V, Foretová L, Novotný J, Kotlas J, Zikán M, Pohlreich P.

Klin Onkol. 2009;22 Suppl:S69-74. Czech.

PMID:
19764403
14.

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
15.

[Inactivation of BRCA1, BRCA2 and p53 genes in sporadic ovarian cancer].

Zikán M, Pohlreich P, Freitag P, Janousek M, Pavlista D, Fischerová D, Jancárková N, Sláma J, Pinkavová I, Cibula D.

Ceska Gynekol. 2008 Oct;73(5):298-302. Czech.

PMID:
19110958
16.

The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.

Kleibl Z, Havranek O, Hlavata I, Novotny J, Sevcik J, Pohlreich P, Soucek P.

Eur J Cancer. 2009 Mar;45(4):618-24. doi: 10.1016/j.ejca.2008.09.022. Epub 2008 Nov 6.

PMID:
18996005
17.

Contribution of mutations in ATM to breast cancer development in the Czech population.

Soukupova J, Dundr P, Kleibl Z, Pohlreich P.

Oncol Rep. 2008 Jun;19(6):1505-10.

PMID:
18497957
18.

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
19.

High frequency of BRCA1/2 and p53 somatic inactivation in sporadic ovarian cancer.

Zikan M, Janatova M, Pavlista D, Pohlreich P.

J Genet. 2007 Aug;86(2):169-71. No abstract available.

20.

Novel complex genomic rearrangement of the BRCA1 gene.

Zikan M, Pohlreich P, Stribrna J, Kleibl Z, Cibula D.

Mutat Res. 2008 Jan 1;637(1-2):205-8. Epub 2007 Aug 7.

PMID:
17868747

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