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Items: 30

1.

Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators, Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS.

NPJ Breast Cancer. 2019 Aug 8;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019.

2.

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
3.

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
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.

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.

7.

Thermovision: a new diagnostic method for orofacial pain?

Fricova J, Janatova M, Anders M, Albrecht J, Rokyta R.

J Pain Res. 2018 Dec 13;11:3195-3203. doi: 10.2147/JPR.S183096. eCollection 2018.

8.

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A, Manoukian S, Bonanni B; ENIGMA Consortium, Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O, Vega A, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA.

Hum Mutat. 2018 Dec;39(12):2025-2039. doi: 10.1002/humu.23652. Epub 2018 Sep 24.

9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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
16.

[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
17.

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.

18.

Antimicrobial-resistant Enterobacteriaceae from humans and wildlife in Dzanga-Sangha Protected Area, Central African Republic.

Janatova M, Albrechtova K, Petrzelkova KJ, Dolejska M, Papousek I, Masarikova M, Cizek A, Todd A, Shutt K, Kalousova B, Profousova-Psenkova I, Modry D, Literak I.

Vet Microbiol. 2014 Jul 16;171(3-4):422-31. doi: 10.1016/j.vetmic.2014.02.014. Epub 2014 Feb 16.

PMID:
24636162
19.

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.

20.

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
21.

[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
22.

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
23.

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
24.

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
25.

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
26.

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.

27.

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

Pohlreich P, Zikan M, Stribrna J, Kleibl Z, Janatova M, Kotlas J, Zidovska J, Novotny J, Petruzelka L, Szabo C, Matous B.

Breast Cancer Res. 2005;7(5):R728-36. Epub 2005 Jul 19.

28.

Microsatellite markers in breast cancer studies.

Janatova M, Pohlreich P.

Prague Med Rep. 2004;105(2):111-8. Review.

PMID:
15782560
29.

Novel somatic mutations in the BRCA1 gene in sporadic breast tumors.

Janatova M, Zikan M, Dundr P, Matous B, Pohlreich P.

Hum Mutat. 2005 Mar;25(3):319.

PMID:
15712267
30.

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