ArticleGlobal medical genetics2025
Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study.
Article in Global medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Hereditary cancers are the consequence of inherited genetic variants that increase the risk of cancer development. The susceptibility to hereditary cancers can be increased by a combination of variable genes with different penetrance, such as BRCA1/2, which are common genes involved in several types of familial cancers. The current study aims to analyze the genetic outcomes of genes linked to hereditary cancer, focusing on identifying pathogenic variants and their allele frequencies to improve risk assessment, genetic counseling, and targeted screening efforts in hereditary cancer management. Method: A group of 298 patients (278 females and 20 males) were chosen for the comprehensive hereditary cancer panel based on their clinical presentation, family history of cancer, and eligibility criteria for hereditary cancer testing. The panel included a custom target enrichment of 52 genes linked to an inherited predisposition to cancer. All therapeutically relevant observations were verified by Sanger sequencing. Result: Among the 298 individuals tested, 78.52 % tested negative for hereditary cancer-associated genes, while 21.48 % tested positive, with a higher proportion amongst females (89.06 %). A majority of those testing positive for hereditary cancer-associated pathogenic variants had a family history of cancer (71.88 %). Consanguinity was absent in most cases (81.90 %). Breast cancer was the most prevalent cancer (246 cases). Genes detected with L/LP variants include BRCA2, BRCA1, ATM, MSH2, MUTYH, and PALB2, with other genes detected at lower frequencies. Notably, BRCA1:c.1444_1447delATAA>A, p.(Ile482fs) variant occurred at the most high frequency (57 %). Conclusion: 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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