Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/del promoter polymorphism (rs3834129) in breast cancer.

abstract Article history:Accepted 20 May 2012Available online 1 June 2012Keywords:Caspase-8Breast cancerPolymorphism Caspase-8 (CASP8) plays a critical role in regulating apoptosis, and its functional polymorphisms may modifycancer risk. We investigated the possible association between CASP8 −652 6N ins/del (rs3834129) and therisk of breast cancer in a sample of Iranian population. This case–control study was done on 236 breast cancerpatients and203 cancerfreehealthy female. Wedesigned arapidandsimplebi-directionalPCR allele-specificamplification (bi-PASA) for detection of CASP8 −652 6N ins/del polymorphism. The results showed that theCASP8 −652 6N del/dl genotype was inversely associated with breast cancer risk (OR=0.33, 95% CI=0.17–0.65, p=0.001). The frequencies of the del allele in cases and controls were 29.1% and 38.6%, respectively. Aninverse association between CASP8 6N del variant and the risk of breast cancer (OR=0.66, 95% CI=0.66–0.87, p=0.002) was found.In conclusion, the result suggests that the CASP8 −652 6N del polymorphism plays a protective role in sus-ceptibility to breast cancer in our population. Further studies in other populations with larger samples areneeded to confirm these findings.© 2012 Elsevier B.V. All rights reserved.