Association of PIK3CA and MDM2 SNP309 with Cervical Squamous Cell Carcinoma in a Philippine Population

Document Type: Research Articles

Authors

1 College of Medicine, University of the Philippines Manila, Manila, Philippines.

2 Department of Developmental Medicine, Research Institute, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan.

3 Department of Obstetrics and Gynecology, College of Medicine, University of the Philippines-Philippines General Hospital, Manila, Philippines.

Abstract

Background: PIK3CA and MDM2 SNP309 have been studied to be associated with cervical cancer. PIK3CA mutation
is associated with poor treatment response and low survival rate while MDM2 is associated with tumorigenesis and
poor prognosis in cervical cancer. Thus, we determined the prevalence of PIK3CA and MDM2 mutations in Filipino
cervical cancer patients. Methods: Twenty-eight formalin-fixed paraffin-embedded cervical squamous cell carcinoma
and 16 non-malignant cervix tissue biopsies of Filipino patients were subjected to PIK3CA gene and MDM2 SNP309
(rs2279744) analysis. Results: PIK3CA gene was found mutated in three (10.71 %) out of 28 cervical cancer patients
included in this study. Among the HPV-negative cervical cancer patients, two (28.57 %) were positive for PIK3CA
mutation and only one (4.76 %) tested positive among the HPV-positive cervical cancer patients. MDM2 SNP309
analysis revealed that T allele (71.43%) was more common in cervical cancer patients compared to the control group.
TG genotype (p = 0.03; OR = 0.18, 95% CI 0.04-0.76) was associated with lower rates of cervical cancer when TT
genotype was used as a reference point. Conclusion: PIK3CA gene mutation was present among Filipino cervical
cancer patients and not in control patients. MDM2 SNP309 analysis revealed that TG genotype has lower association
to cervical cancer when compared with the TT and GG genotypes.

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