MOLECULAR CHARACTERISATION OF CANCER-ASSOCIATED GENE MUTATIONS AND THEIR POTENTIAL FUNCTIONAL CONSEQUENCES
DOI:
https://doi.org/10.65327/bp.v12i2.2535Keywords:
BRCA1, BRCA2, cancer-associated mutations, molecular characterisation, clinical significanceAbstract
The mutations associated with cancer may affect genomic stability, cancer risk, and clinical outcomes that are associated with DNA repair genes. BRCA1 and BRCA2 are especially notable as genetic variants in these genes are strongly linked with hereditary breast and ovarian cancers. In this study, we attempted to describe the distribution of BRCA1 and BRCA2 variants at the molecular level and assess their potential functional and clinical implications from the available variant classifications. A secondary bioinformatics analysis was done on a data set with 2000 cancer associated variant records. Frequencies, percentages, cross-tabulation and chi-square were used to analyse molecular characteristics such as distribution of genes, type of mutations, genomic annotation and clinical significance. Variants in BRCA2 were more common than variants in BRCA1. Single nucleotide variants were the most prevalent type of mutation, followed by deletions, and duplications, microsatellite variants and insertions and indels were less common. There were significant associations between gene identity and type of mutation, and between gene identity and clinical-significance classification. Deletions, duplications, insertions, indels, and microsatellite variants had a more uniform distribution of pathogenic related classifications, while the single nucleotide variants had a more diffuse distribution among the different classifications of pathogenic, benign, conflicting, and uncertain. The results suggest that BRCA1 and BRCA2 have different molecular and clinical-significance profiles. Combining mutation type with the type of variant could enhance interpretation of cancer associated alterations, aid molecular diagnosis and cancer-risk assessment, and aid the future work in precision oncology.
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Copyright (c) 2026 Dr. Pratibha Prasad, Dr. Huda Abutayyem, Dr. Amawaye Al-Sammarraie
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