The Role of KIT Gene in Sporadic Breast Cancer

Introduction: One of the important factors in angiogenesis and tumor proliferation is KIT gene, a protooncogene located at 4q12 which spans 21 exons and encodes a protein that comprises an extracellular domain with immunoglobulin-like repeats, a transmembrane domain, a juxtamembrane domain, and a tyrosine kinase domain. It is activated by binding of its ligand, the stem cell factor. Phosphorylation cascade activation is followed by activation of various transcription factors. By inhibiting angiogenesis genes such as KIT gene, the suppression of malignant tumors such as breast cancer could be possible. Material and Methods: In this study, we investigated association between copy number variation of KIT gene and increased risk of sporadic breast cancer in 48 female patients, using MLPA kit p354. Result: In this study 19% of patients had duplication in exons 1 and 19 of KIT gene. Discussion and Conclusions: KIT regulates apoptosis, cell differentiation, proliferation, and angiogenesis that could be an important factor in cancer development, and in association with increased risk of developing sporadic breast cancer. This is first study which provides the evidences that the duplication in exons 1 and 19 of KIT gene may be a risk factor for development of sporadic breast cancer in an Iranian population. Further studies with more detailed data are needed to verify these initial findings.

کلیدواژه ها:

KIT Gene ، Angiogenesis ، Breast Cancer