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.

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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
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article

Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study

M. Ajmal Ali, Ömer Diker, Polat Olgun, Mahmut Çerkez Ergören et al.
Global Medical Genetics
Genomic variations and chromosomal abnormalities
article

Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study

M. Ajmal Ali, Ömer Diker, Polat Olgun, Mahmut Çerkez Ergören, Kübra Damla Erol, İlkem Özce Özçelik
article en

Abstract

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.

Global Medical GeneticsVol. 12(3)
Near East University (CY)
Openalex Percentile: Top 96%
Genomic variations and chromosomal abnormalities
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