Determine Frequency of PIK۳CA common mutations in Iranian Breast Cancer Patient

Breast cancer is the most common cancer and the leading cause of death in women worldwide. As well as Breast cancer is the most common women’s malignancy in Iran. Breast cancer is a heterogeneous disease on the molecular level. Hereditary familial breast cancer accounts for ۱۰–۱۵% of all breast tumors, hence detection of BRCA۱ and BRCA۲ gene mutations and family history is important for familial breast cancer treatment. After TP۵۳ as a tumor suppressor gene, the PIK۳CA oncogene is the most frequently mutated gene in human breast cancer. The phosphatidylinositol-۳-kinase (PI۳K) signaling pathway plays a critical role in cellular functions such as proliferation , apoptosis, differentiation, migration and survival . The PI۳K family consisted of four classes. PIK۳CA mutations result in hyperactivation of PI۳K signaling. the pi۳k is a heterodimer of regulatory (p۵۸α) and a catalytic subunit (p۱۱۰α). Activation of PI۳K signaling pathway directly linked to cancer through somatic mutation of PIK۳CA. Alterations in components of this signaling pathway, including gain-of-function mutations in the p۱۱۰α catalytic subunit of PI۳K (PIK۳CA), have been identified in a various cancer types including glioblastoma, Lung Cancer, Ovarian Cancer, Colon Cancer, Gastric Cancer and Breast Cancer. previous studies reported that PIK۳CA is the most frequent mutated oncogene and plays an important role in breast cancer .frequency of PIK۳CA mutations in breast cancer ranges from ۸% to ۴۰%. The most common mutations in the PI۳KCA associated with breast cancer are located in two hotspots, exons ۹ and ۲۰, encoding the helical and kinase domains respectively. The purpose of this study was determined the PIK۳CA common mutations frequency in Iranian breast cancer patient. method: Tumor samples: ۵۰ FFPE breast tumors were collected. DNA Extraction Primer designing PCR sanger sequencing sanger sequencing analysis results: PIK۳CA mutations were detected in ۵ tumors. two mutations were detected in exon ۹ and three mutations were detected in exon ۲۰. discussion: According to the results obtained from this study, more investigation in more samples is require to determined the frequency of PIK۳CA mutations in Iranian breast cancer patients.

کلیدواژه ها:

Breast cancer ، PIK۳CA ، somatic common mutations