5. Role of PTEN Gene Mutations in Cowden Syndrome
Fact number five takes us to the connection between PTEN gene mutations and a rare genetic disorder known as Cowden Syndrome. Named after the first patient diagnosed with the condition, Cowden Syndrome is characterized by the growth of multiple benign tumors (hamartomas) and an increased risk of developing certain types of cancer.
Research points out that nearly 80% of individuals diagnosed with Cowden Syndrome carry a mutation in the PTEN gene. This mutation leads to the disruption of the gene’s tumor-suppressing capabilities, thereby causing the formation of multiple non-cancerous tumors.
People with Cowden Syndrome usually start showing signs in their late twenties. These signs may include multiple hamartomas in various parts of the body, including the skin, brain, breast, and thyroid. Additionally, they may also have a greater likelihood of developing cancers such as breast, thyroid, and endometrial cancer.
The role of PTEN gene mutations in Cowden Syndrome underscores the critical impact of this gene on human health. Understanding this relationship not only aids in identifying the root cause of the condition but also paves the way for developing targeted therapeutic strategies. (5)
