Faculty Mentor
Dr. Elaine Vanterpool
Files
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Description
Breast and ovarian cancer are two of the most prevalent diseases affecting women. Ovarian cancer is a disease defined by the presence of tumors in the ovaries. Breast cancer is the uncontrollable cell growth of breast tissue leading to tumor formation. BRCA 1/2, PALB2, TP53, and PTEN are common gene mutations found present in breast and ovarian cancer. The PIK3CA gene mutation is less frequent, however, its mutations are almost exclusively tied to breast and ovarian cancer. Forty percent (40%) of breast cancers and thirty percent (30%) of ovarian cancers have a mutation in the PIK3CA/AKT signaling pathway (Chen et al.). PIK3CA is found on chromosome 3q26.3 in eukaryotic cells. This gene is essential in propagating pathways within the cell membrane. This study aims to reveal the correlation between missense mutations in the PIK3CA gene and protein function. Simple Clinvar analysis was used to identify how mutations to PIK3CA contribute to breast and ovarian cancer. Bioinformatics tool Poly-Phen-2 highlighted the Glu545Ala and Glu135Lys amino acid shifts’ likely damaging effect to the protein. However, in the SIFT analysis only the Glu135Lys would affect the protein function. The data suggests a relationship between a single nucleotide polymorphism that causes an amino acid change, known as a missense mutation. Mistakes found in the protein sequence can lead to misfolding and pathogenicity of cancer cells. Medical intervention for tumors caused by PIK3CA and its variant mutations include surgical excision and chemotherapy. Still, genetic research is significant to advancing personalized medicine treatment for diseases caused by mutations in breast and ovarian cancer. Understanding the role of the PIK3CA gene can enhance clinical approaches in treating breast and ovarian cancer.
Publication Date
2025
City
Huntsville
Disciplines
Biology
Recommended Citation
Vanterpool, Elaine and Krigger, Kaylani, "Implications of PIK3CA on Breast and Ovarian Cancer" (2025). Student Posters. 62.
https://ouscholars.oakwood.edu/student-posters/62