Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study
This study identified key pathogenic variants in hereditary cancer genes, with BRCA1 and BRCA2 mutations being the most prevalent. The findings reinforce the strong association between family history and hereditary cancer risk while indicating that consanguinity plays a limited role. This highlights the importance of comprehensive genetic screening and personalized counseling to improve hereditary cancer risk assessment and early detection strategies.
Authors
- M. Ajmal Ali (ORCID: https://orcid.org/0000-0003-1636-0855)
- Ömer Diker (ORCID: https://orcid.org/0000-0001-7162-4812)
- Polat Olgun (ORCID: https://orcid.org/0000-0001-8572-4304)
- Mahmut Çerkez Ergören (ORCID: https://orcid.org/0000-0001-9593-9325)
- Kübra Damla Erol
- İlkem Özce Özçelik
Institutions
- Near East University (CY)
Publication Details
- Journal
- Global Medical Genetics
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1016/j.gmg.2025.100052
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00