Meme kanseri risk ve prognozunda PIK3CA gen varyasyonu ve serum PI3K düzeyinin Türk toplumunda değerlendirilmesi]

Objectives: The PI3K (Phosphatidylinositol 3-kinase) is the member of lipid kinase family that plays important roles in tumorigenesis, cancer development and cell proliferation. In our study, we aimed to investigate the relationships between breast cancer risk and prognosis with PIK3CA rs6443624 (C>A) intron region gene polymorphism and serum PI3K levels. Methods: A total of 61-patients with breast cancer and 101 controls were included to the study. PIK3CA polymorphism was detected by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique. Serum PI3K levels were measured by Enzyme-Linked Immuno Sorbent Assay (ELISA). Results: PIK3CA (C>A) gene polymorphism genotype and allele distributions were no significant in cases and controls (p>0.05). The serum PI3K levels of breast cancerpatients were found significantly higher than the control groups (p=0.033). There were not significant association between PIK3CA (C>A) gene polymorphism and clinic and prognostic parameters in our study group. We also evaluated serum PI3K levels in the term of tumor progression, but we did not observe any significant data. Conclusions: We suggest that serum PI3K levels may play role in breast cancer risk and larger patient groups may have clinical value in assessment of the genetic risk and tumor progression of breast cancer. Keywords: apoptosis; breast cancer; phosphatidylinositol4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA); serum level; single nucleotide polymorphism (SNP)

The influence of CASP8 D302H gene variant in colorectal cancer risk and prognosis

Apoptosis is defined as programmed cell death, which regulates cellular functions and various physiological responses. Several studies reported that Caspase genes play important roles in the apoptosis and inflammation process. Caspase-8 (CASP8) is a member of the cysteine protease family and a key regulator gene in the induction of apoptosis. In present study, we aimed to investigate the possible associations between the CASP8; D302H (G>C) gene polymorphism and colorectal cancer risk and prognosis