Insights into the role of RUNX1 gene in female-related cancers

Abstract

The transcription factors of runt-related transcription factor (RUNX) are important regulators of various developmental pathways, with roles in proliferation, differentiation, apoptosis, and cell lineage. One of the core subclasses of the RUNX family that codes for a number of transcription-binding proteins is the RUNX1 gene, which is located on chromosome 21q22.12. There has been extensive research on RUNX1 mutations in hematological cancers, where the most conspicuous position of several chromosomal translocations has drawn interest as a tumor suppressor. In this paper, the malignancies triggered by RUNX1 mutations, which are strongly associated with cancers of the female reproductive system, along with their diagnoses and potential treatments, are reviewed. It has been found that RUNX1 mutation plays a pervasive function in female health, including sex determination, follicular development, steroidogenesis, and the interaction of the estrogen system. In contrast, chromosomal translocations in the gene linked to RUNX1 mutation may lead to severe malignancies in females. Breast, ovarian, uterine, and cervical cancers have shown the highest frequency of genetic abnormalities in the RUNX1 gene. The second most common cause of cancer-related mortality in women is breast cancer, which is also the most common cancer. There is an opposing relationship between uterine cancer and low-grade tumors that often remain confined to the uterus. Due to the regular occurrence of promoter hypermethylation and hypomethylation changes, ovarian cancer has become the most fatal of all gynecological tumors. Finally, despite being the cancer least likely to result from RUNX1 mutation, cervical cancer can directly impair natural killer cell activity. Both hematopoietic and non-hematopoietic cancer cells can form and become tumors when the RUNX1 gene is mutated, with female malignancies being the primary target. Therefore, more research on RUNX1 gene’s pattern of expression, both in vitro and in silico, is needed to lower the incidence of female-related cancers.