H1047R

H1047R is a specific point mutation within the PIK3CA gene, which encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K). This mutation involves a substitution of histidine (H) with arginine (R) at amino acid position 1047. It is classified as an oncogenic mutation, frequently observed in various human cancers, including breast, colon, and endometrial cancers.

The H1047R mutation leads to gain-of-function alterations in PI3K activity, resulting in increased cellular proliferation, survival, and growth signaling. These changes contribute to oncogenesis by activating the PI3K/Akt/mTOR pathway, which is crucial for regulating cell cycle progression and metabolism. The mutation's presence often correlates with aggressive tumor behaviors and may influence the tumor's response to targeted therapies.

Detection of H1047R is typically performed through molecular genetic testing, which identifies mutations at the DNA level in tumor biopsies. Its prevalence varies depending on cancer type but is notably significant in breast cancer, where it is one of the most common PIK3CA mutations.

Therapeutically, tumors harboring the H1047R mutation may respond differently to PI3K inhibitors, which are under ongoing clinical investigation. The mutation's role as a predictive biomarker is being evaluated to guide targeted treatment strategies and improve patient outcomes.

Understanding the molecular details of H1047R contributes to the development of precision medicine approaches in oncology, emphasizing the importance of genetic profiling in cancer management. Research continues to assess its impact on tumor biology and therapeutic resistance.