Abstract 243P
Background
Breast cancer remains the leading cause of female morbidity and mortality despite advances in screening, therapy and surveillance. In 2020, approximately 2.26 million cases have been reported with 685,000 women died from breast cancer. Current therapeutic strategies aim to treat the disease after it has developed. However, side effects constantly present and cancer cells become resistant. Thus, there is a need to find alternative therapeutic strategies that target carcinogenic pathways with greater specificity and lower toxicity. The finding of RUNX1 mutations in luminal breast cancer patients has put it in a spotlight as it is implicated in the disease development and progression. In view of this, there is a potential for RUNX1 to be a therapeutic target for breast cancer. Therefore, this study has been conducted to understand the gravity of RUNX1 mutations in breast cancer patients and its association with the progress of the disease.
Methods
Data obtained from cBioPortal has been analysed on 7823 male and female breast cancer patients comprising 8393 profiled samples from 20 combined studies. 243 of these patients express at least one RUNX1 mutation.
Results
RUNX1 is in the top 30 most mutated genes in breast cancer with the frequency of 3.3% for each of the profiled samples to express at least one RUNX1 mutation. The majority of these mutations are found in women with the left side of the breast has more mutations than the right side and they are detected as early as Stage I of the disease. It is also found that ER-positive breast cancer patients express higher number of RUNX1 mutations than ER-negative breast cancer patients. Additionally, the liver, bone and lymph node have the highest RUNX1 mutations of 2820, 1792 and 1103 respectively comparative to other organs that have mutations ranging from 18-511 only.
Conclusions
RUNX1 mutagenicity is prominent in breast cancer, many of which have led to gain-of-function, loss-of-function, possibly loss-of-function, and switch-the-function of RUNX1. Revelation of these changes may provide insight into developing novel therapeutic strategies for breast cancer so it can replace the diversity of hormone receptor status and the expression of surface molecules that have been used as a guide for therapy decisions.
Legal entity responsible for the study
The author.
Funding
Ministry of Higher Education, Malaysia (600-IRMI/FRGS-RACER 5/3 (095/2019)).
Disclosure
The author has declared no conflicts of interest.