Background: The prevalence of breast cancer is increasing at an alarming rate and thus
demands exploration of the most relevant diagnostic biomarkers. RAD50 is a cancer susceptibility
gene that encodes a DNA damage repairing protein. Its role in breast cancer as clinico-pathological
specific biomarker has yet to be explored.
Objective: This study was aimed to investigate the RAD50 expression and its promoter’s methylation
level variations in breast invasive carcinoma patients having different clinico-pathological features.
This study further explored the mutational spectrum of RAD50 and the correlation of its expression
with the survival of patients and the effectiveness of drugs used for treatment.
Methods: Enrichment analysis of RAD50 was accomplished using the platform of GeneCards. The
information regarding RAD50 expression, its promoter methylation and impact on survival of patient
was retrieved from TCGA and CPTAC databases. However, the effect of RAD50 expression
on tumor’s response to various drugs was deduced through the analysis of CCLE and genomic of
Results: The promoter hyper-methylation and elevated expression of RAD50 was documented in
various subgroups of breast invasive carcinoma. The subjects having low/medium expression levels
were observed to survive longer than patients exhibiting high expression of RAD50 except for
post-menopausal subjects. The frequency of missense mutations was higher in RAD50 than truncating
mutations. Most of the drugs were found to have a positive correlation with RAD50 expression.
Conclusion: The status of RAD50 promoter’s methylation inversely correlates with the expression
level of RAD50. While RAD50 is overexpressed in breast cancer patients and thus makes tumor resistant
against many anti-cancer drugs.