Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer
Abstract
:1. Introduction
2. Results
2.1. Case History
2.2. Molecular Genetic Testing of BRCA1 and BRCA2 Genes
2.3. Cascade Screening
3. Discussion
4. Methods
Molecular Genetic Methods and Data Analysis
- Molecular genetic tests were performed on genomic DNA samples isolated from peripheral blood leukocytes using QIAamp DNA Blood Mini Kit (Qiagen, Hilden, Germany). Coding regions and exon/intron boundaries of BRCA1 and BRCA2 genes were analyzed using Devyser BRCA (Devyser, Hägersten, Sweden) Next Generation DNA library preparation kit. CNV analysis was also performed based on coverage data. Bidirectional DNA sequencing was performed using Illumina MiSeq sequencer (San Diego, CA, USA).
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Madar, L.; Majoros, V.; Szűcs, Z.; Nagy, O.; Babicz, T.; Butz, H.; Patócs, A.; Balogh, I.; Koczok, K. Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer. Int. J. Mol. Sci. 2023, 24, 15334. https://doi.org/10.3390/ijms242015334
Madar L, Majoros V, Szűcs Z, Nagy O, Babicz T, Butz H, Patócs A, Balogh I, Koczok K. Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer. International Journal of Molecular Sciences. 2023; 24(20):15334. https://doi.org/10.3390/ijms242015334
Chicago/Turabian StyleMadar, László, Viktória Majoros, Zsuzsanna Szűcs, Orsolya Nagy, Tamás Babicz, Henriett Butz, Attila Patócs, István Balogh, and Katalin Koczok. 2023. "Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer" International Journal of Molecular Sciences 24, no. 20: 15334. https://doi.org/10.3390/ijms242015334