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PIK3CA cancer mutations display gender and tissue specificity patterns
Silvia Benvenuti1, Milo Frattini, Sabrina Arena
1Laboratory of Molecular Genetics, The Oncogenomics Center, Institute for Cancer Research and Treatment (IRCC), University of Torino Medical School, Candiolo, Italy.
Phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) mutations show gender and tissue specificity in cancer. PIK3CA mutations are more common in women with colorectal cancer and predominantly occur in exon 20 in male breast cancer.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Oncogenic alleles often exhibit tissue-specific prevalence, such as KRAS and BRAF mutations.
- Somatic mutations in the PIK3CA gene are frequent in various solid tumors.
- The phosphatidylinositol 3-kinase (PI3K) pathway is crucial in cell growth and cancer development.
Purpose of the Study:
- To investigate potential gender and tissue specificity of PIK3CA oncogenic mutations in exons 9 and 20.
- To analyze PIK3CA mutation patterns in breast and colorectal cancers across genders.
Main Methods:
- Analysis of large patient cohorts of breast and colorectal cancers.
- Examination of PIK3CA mutation frequencies and locations (exons 9 and 20) in relation to gender and cancer type.
- Comparative analysis with other common cancer-associated genes (KRAS, APC, TP53).
Main Results:
- PIK3CA mutations demonstrated distinct patterns in colorectal and breast cancers.
- Colorectal cancer PIK3CA mutations showed a gender bias, occurring more frequently in women.
- Male breast cancers exhibited PIK3CA mutations primarily in exon 20, unlike female breast tumors.
Conclusions:
- PIK3CA mutations in exons 9 and 20 display significant gender and tissue specificity.
- Different amino acid alterations in PIK3CA may have distinct functional impacts on oncogenesis.
- Sexual dimorphisms and tissue-specific factors may influence the occurrence of PIK3CA cancer alleles.
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