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Research Article
Malgorzata Ostrowska
Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin,
Corresponding Author
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Background: Determination of the BRCA1/BRCA2 mutation status in patients with breast and/or ovarian cancer is commonly performed using various molecular techniques. The use only of targeted PCR-based tests may not be sufficient, as not all possible variants are investigated. Quick and effective diagnosis in order to apply the appropriate treatment is extremely important. In the following study, we used next generation sequencing (NGS) techniques to identify novel pathogenic variants in BRCA1 and BRCA2.
Methods: In this study, material (blood and FFPE) collected from a 67-year-old patient with ovarian cancer was used. The presence of hereditary mutations characteristic for the Polish population was examined using Sanger sequencing. BRCA1 and BRCA2 gene exons were amplified using the Devyser BRCA kit and sequenced on the Miniseq.
Results: No germline mutations characteristic for the Polish population were detected. However,12 single nucleotide variants and 2 indels were identified. We found a new deleterious mutation of gene BRCA1 (c.829_832delAATA). To our knowledge, this mutation has not been reported yet in the Polish population and others.
Conclusions: The use of the NGS technique increases the possibilities of detecting mutational changes in patients with ovarian and/or breast cancer. The frequency of somatic mutations in ovarian tumors is low (3% - 9%) but their detection may have therapeutic benefits due to the use of poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitors. Quick determination of pathogenic variants is important to facilitate specific therapy in addition to the identification of familial predisposition to cancer.
Keywords
BRCA1, BRCA2, ovarian/breast cancer, NGS, PARP inhibitors
Figure 1
Figure 1
This is a list of supplementary files associated with this preprint. Click to download.
- Additionalfile1TableS1.doc
Contains Table S1 with the primer sequences used for BRCA1 mutations analysis by Sanger sequencing
- Additionalfile1TableS1.doc
Contains Table S1 with the primer sequences used for BRCA1 mutations analysis by Sanger sequencing
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A new preprint design is coming!
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This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Research Article
Malgorzata Ostrowska
Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 8 Skromna St., 20-704 Lublin,
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 17 Dec, 2020
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Epigenetics & Genomics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Determination of the BRCA1/BRCA2 mutation status in patients with breast and/or ovarian cancer is commonly performed using various molecular techniques. The use only of targeted PCR-based tests may not be sufficient, as not all possible variants are investigated. Quick and effective diagnosis in order to apply the appropriate treatment is extremely important. In the following study, we used next generation sequencing (NGS) techniques to identify novel pathogenic variants in BRCA1 and BRCA2.
Methods: In this study, material (blood and FFPE) collected from a 67-year-old patient with ovarian cancer was used. The presence of hereditary mutations characteristic for the Polish population was examined using Sanger sequencing. BRCA1 and BRCA2 gene exons were amplified using the Devyser BRCA kit and sequenced on the Miniseq.
Results: No germline mutations characteristic for the Polish population were detected. However,12 single nucleotide variants and 2 indels were identified. We found a new deleterious mutation of gene BRCA1 (c.829_832delAATA). To our knowledge, this mutation has not been reported yet in the Polish population and others.
Conclusions: The use of the NGS technique increases the possibilities of detecting mutational changes in patients with ovarian and/or breast cancer. The frequency of somatic mutations in ovarian tumors is low (3% - 9%) but their detection may have therapeutic benefits due to the use of poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitors. Quick determination of pathogenic variants is important to facilitate specific therapy in addition to the identification of familial predisposition to cancer.
Figure 1
Figure 1
This is a list of supplementary files associated with this preprint. Click to download.
- Additionalfile1TableS1.doc
Contains Table S1 with the primer sequences used for BRCA1 mutations analysis by Sanger sequencing
- Additionalfile1TableS1.doc
Contains Table S1 with the primer sequences used for BRCA1 mutations analysis by Sanger sequencing
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