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

2019 ◽  
Vol 32 (Suppl 2) ◽  
Author(s):  
Jana Soukupová ◽  
Klára Lhotová ◽  
Petra Zemánková ◽  
Michal Vočka ◽  
Markéta Janatová ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
Massive Parallel Sequencing ◽  
Hereditary Ovarian Cancer ◽  
The Czech Republic ◽  
Parallel Sequencing

scholarly journals The Czech Republic: Genetic Counseling in High-Risk Breast/Ovarian Cancer Families

1999 ◽  
Vol 15 (1-3) ◽  
pp. 50-50
Author(s):  
L. Foretova ◽  
E. Machackova ◽  
D. Valik ◽  
L. Messiaen
Keyword(s):  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Czech Republic ◽  
High Risk ◽  
The Czech Republic ◽  
High Risk Breast

Mutations of the BRCA1 Gene in Hereditary Breast and Ovarian Cancer in the Czech Republic

2003 ◽  
Vol 12 (1) ◽  
pp. 23-29 ◽  
Author(s):  
P. Pohlreich ◽  
J. Stříbrná ◽  
Z. Kleibl ◽  
M. Zikán ◽  
R. Kalbáčová ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
Breast And Ovarian Cancer ◽  
The Czech Republic ◽  
I Gene

60 Predisposing genes in hereditary breast and ovarian cancer in the Czech Republic

2010 ◽  
Vol 8 (5) ◽  
pp. 16 ◽  
Author(s):  
P. Pohlreich ◽  
J. Stribrna ◽  
I. Ticha ◽  
J. Soukupova ◽  
Z. Kleibl ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
Breast And Ovarian Cancer ◽  
The Czech Republic ◽  
Predisposing Genes

scholarly journals Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic

2001 ◽  
Vol 18 (6) ◽  
pp. 545-545 ◽  
Author(s):  
Eva Machackova ◽  
Jiri Damborsky ◽  
Dalibor Valik ◽  
Lenka Foretova
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
Brca1 And Brca2 ◽  
The Czech Republic ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals Genetic and Preventive Services for Hereditary Breast and Ovarian Cancer in the Czech Republic

2006 ◽  
Vol 4 (1) ◽  
pp. 3 ◽  
Author(s):  
Lenka Foretova ◽  
Katarina Petrakova ◽  
Marketa Palacova ◽  
Renata Kalabova ◽  
Marie Navratilova ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
Preventive Services ◽  
Breast And Ovarian Cancer ◽  
The Czech Republic

scholarly journals High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

2007 ◽  
Vol 8 (1) ◽  
Author(s):  
Petra Vasickova ◽  
Eva Machackova ◽  
Miroslava Lukesova ◽  
Jiri Damborsky ◽  
Ondrej Horky ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
The Czech Republic ◽  
High Occurrence

scholarly journals Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Anna Ruiz ◽  
Gemma Llort ◽  
Carmen Yagüe ◽  
Neus Baena ◽  
Marina Viñas ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Lower Cost ◽  
Pcr Amplification ◽  
Bioinformatic Analysis ◽  
Massive Parallel Sequencing ◽  
Diagnostic Strategy ◽  
Breast And Ovarian Cancer ◽  
Parallel Sequencing ◽  
Parallel Pyrosequencing ◽  
Generation Sequencing

High throughput methods such as next generation sequencing are increasingly used in molecular diagnosis. The aim of this study was to develop a workflow for the detection ofBRCA1andBRCA2mutations using massive parallel sequencing in a 454 GS Junior bench top sequencer. Our approach was first validated in a panel of 23 patients containing 62 unique variants that had been previously Sanger sequenced. Subsequently, 101 patients with familial breast and ovarian cancer were studied.BRCA1andBRCA2exon enrichment has been performed by PCR amplification using the BRCA MASTR kit (Multiplicom). Bioinformatic analysis of reads is performed with the AVA software v2.7 (Roche). In total, all 62 variants were detected resulting in a sensitivity of 100%. 71 false positives were called resulting in a specificity of 97.35%. All of them correspond to deletions located in homopolymeric stretches. The analysis of the homopolymers stretches of 6 bp or longer using the BRCA HP kit (Multiplicom) increased the specificity of the detection ofBRCA1andBRCA2mutations to 99.99%. We show here that massive parallel pyrosequencing can be used as a diagnostic strategy to test forBRCA1andBRCA2mutations meeting very stringent sensitivity and specificity parameters replacing traditional Sanger sequencing with a lower cost.

PIPAC – overview of the method and first use in the Czech Republic

2020 ◽  
Vol 99 (12) ◽  
Keyword(s):  
Colorectal Cancer ◽  
Ovarian Cancer ◽  
Czech Republic ◽  
Stomach Cancer ◽  
New Technique ◽  
The Czech Republic ◽  
Gaseous Environment ◽  
A New Technique ◽  
Peritoneal Spread

PIPAC is a new technique for intra-abdominal administration of aerosol chemotherapy in a gaseous environment (capnoperitoneum). It can be indicated for peritoneal spread of various origins, most commonly ovarian cancer, stomach cancer and colorectal cancer. Due to its mini-invasiveness, the application can be repeated. The article provides a brief overview of current views of PIPAC and describes the first experience with PIPAC in the Czech Republic.

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