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Volume 2
July 24-25, 2019 | Rome, Italy
World Hematology 2019 & Nursing Care 2019
July 24-25, 2019
Journal of Blood Disorders and Treatment
47
th
WORLD CONGRESS ON NURSING CARE
11
th
WORLD HEMATOLOGY AND ONCOLOGY CONGRESS
&
Frequency of sequence variants BRCA1, BRCA2 and candidate genes in the Czech
Republic
Matulová P
1
, Janoutová J
2, 3
1
University of Ostrava, Czechia
2
Palacky University Olomouc, Czechia
3
Palacky University Olomouc, Czechia
Objectives
: Breast cancer (BC) is one of the most discussed topics and it´s the most common cancers in women. BC are
diagnosed over 6500 new cases for year in the Czech Republic. Risk factors include hormonal, nutritional, environmental and
genetic factors. Genes play an important role in BC diagnosis are BRCA1/2 genes. In the Czech statistics, the lifetime cumulative
risk of BC with confirmed mutations in BRCA1/2 genes ranges from 55 to 85%. The aim was to determine the presence of a
pathogenic sequence variant in the BRCA1/BRCA2 genes, the frequency of mutation and finding the percentage of sick women
and presence of mutation based on molecular genetic analysis.
Methods
: 2033 probands were genetically tested for the presence of sequence variants in BRCA1/BRCA2 genes. Of these, 157
women already had BC, 26 women had ovarian cancer and 22 probands was healthy at the time.
Results
: From genetically tested probands were confirmed 199 mutations in BRCA1/2 genes and 13 mutations in candidate
genes. This confirms 9.8% of high-risk persons or already cancer patients are hereditary by mutation in the BRCA1/BRCA2
gene. The BRCA1/2 gene mutations were compared in the Czech population and a higher quantity was find in the BRCA1 gene
variants. The most frequent sequence variant is c.5266dupC in the BRCA1 gene.
Conclusion
: The results show 72% of women with confirmed BRCA1 mutation had BC and 16.4% had ovarian cancer. And
women with confirmed mutations in the BRCA2 gene, 77.5% had breast cancer and 7% had ovarian cancer. Compared to
Western European countries, the result is similar. The frequency of mutations in the BRCA1/BRCA2 genes is higher in the
Czech Republic than the Eastern continent, as is the quantity of female BC patients. We should thing the causes and needs of
investigating women with BC predisposition.
Biography
Petra Matulová is a PhD student in Public Health at the Department of Epidemiology and Public Health, Faculty of Medicine, Ostrava.
She studies the prevention of individual diseases and also deals with the early diagnosis of cancer. She worked in the Laboratory of
Molecular Biology, Department of Medical Genetics and now she is a member of the team at the Center of Epidemiology Research,
Faculty of Medicine, Ostrava. She finds that genetics play an increasingly important role in the development and progression of various
cancers. She deals with the issue of cancer too.
pmatulova@seznam.czJ Blood Disord Treat, Volume 2