Whole exome sequencing for indentification of specific gene mutations in an Indian cohort of triple-negative breast cancer patients

ABSTRACT: This study analyzed whole exome sequencing data from 15 Indian triple-negative breast cancer (TNBC) patients. On average, 106 mutations per sample were identified. The most significant recurrent mutations were found in genes including CTNNB1, TP53, and SLC7A8. Other cancer-associated genes also showed mutations. The TNBC genomes exhibited predominant mutational signatures related to spontaneous deamination, DNA repair failure, and transcriptional strand bias. These mutations were involved in several major signaling pathways. The findings highlight key exonic mutations in Indian TNBC patients that could be used for screening, risk prediction, and developing targeted therapeutics. Further studies on genetic variability among TNBC patients are suggested for improved treatment strategies.

PROVIDER: PRJEB79498 | ENA |

REPOSITORIES: ENA