DNA damage repair pathway genes are key components for maintaining genomic stability and are mainly associated with hereditary breast and ovarian cancer.

The present study aimed to investigate the gene expression profile of DNA damage repair pathway genes, including BRCA1, BRCA2, ATM, TP53, CHEK2, MRE11, RAD50, BARD1, PALB2, and NBN, in hereditary breast and ovarian cancer patients using quantitative real-time PCR.

The study showed significant upregulation of most DNA damage repair genes in HBOC patients compared to controls, except MRE11, which was downregulated. Receiver operating characteristic (ROC) curve analysis revealed that MRE11 (p < 0.001), BRCA1 (p < 0.001), BRCA2 (p < 0.001), and PALB2 (p < 0.001) can be used as potential diagnostic biomarkers for hereditary breast and ovarian cancer. Spearman correlation analysis showed that RAD50 was significantly associated with the BRCA1/2 mutation status (p = 0.05). Furthermore, bivariate analysis revealed a strong positive correlation between BARD1 gene expression and the expression of BRCA1, PALB2, and NBN genes. Kaplan–Meier survival analysis showed that reduces expression of the MRE11 gene was associated with better overall survival.

The study findings may lead to a better understanding of the molecular mechanisms underlying hereditary breast and ovarian cancer, suggesting its role as a potential diagnostic and prognostic marker.