How does PTEN influence breast cancer?
In breast tumors, PTEN expression is often lost through mutations or epigenetic mechanisms [23,24]. Reduced PTEN expression [24-26] and the dysregulated PI3K/Akt pathway [27,28] have been associated with aggressive breast cancer phenotype and poor outcome of the disease.
How does PTEN mutation cause cancer?
These mutations impair the tumor suppressor function of the PTEN enzyme, allowing cells to grow and divide without control or order. This uncontrolled cell growth contributes to the formation of a cancerous tumor.
What happens when PTEN is mutated?
If you have a PTEN genetic mutation, it can cause the growth of noncancerous tumors called hamartomas. Hamartomas can show up throughout the body. The mutation can also lead to the development of cancerous tumors.
What is a PTEN mutation?
Phosphatase and tensin homolog ( PTEN) is a phosphatase, in humans, is encoded by the PTEN gene. Mutations of this gene are a step in the development of many cancers, specifically glioblastoma, lung cancer, breast cancer, and prostate cancer.
What type of mutation causes breast cancer?
PALB2 – After BRCA1 and BRCA2,PALB2 is currently the third most prevalent breast cancer gene.
Why is PTEN an important tumor suppressor?
Types of Tumor Suppressor Genes. Tumor suppressor genes come in three main types.
What is PTEN syndrome?
The PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations of the PTEN tumor suppressor gene in egg or sperm cells (germline). These disorders are characterized by multiple hamartomas that can affect various areas of the body.