2. The Various Faces of PTEN Gene Mutations
Our second fact brings us to the various types of PTEN gene mutations. These mutations are not all the same; they differ based on the nature of the mutation and the subsequent effects on the body. The primary types of PTEN gene mutations are germline mutations and somatic mutations.
Germline mutations occur in the egg or sperm cell and can be inherited by future generations. Individuals who have germline PTEN mutations are diagnosed with a condition known as PTEN hamartoma tumor syndrome (PHTS), characterized by the growth of benign tumors called hamartomas.
Somatic mutations, on the other hand, occur in the body’s cells post-conception. These mutations are not inherited but are often a result of environmental factors such as exposure to radiation or certain chemicals. Somatic PTEN mutations are common in various types of sporadic (non-hereditary) cancers, including glioblastoma, endometrial cancer, and prostate cancer.
The incredible diversity observed in the manifestation of PTEN gene mutations paints a complex picture of this gene’s functional significance. It’s not just about cancer risk, but it encompasses a much broader health landscape, influencing numerous body systems and functions.
This highlights the PTEN gene’s central role in maintaining our body’s cellular equilibrium. With its reach extending into various biological processes, PTEN is indisputably a critical player in human health. Therefore, studying these mutations isn’t just about addressing individual health conditions. Instead, it provides insights into the fundamental workings of our bodies at a cellular level, enriching our understanding of human biology as a whole. (2)
