Which syndrome is characterized by the presence of PTEN mutations?

The correct choice is Cowden Syndrome, which is directly associated with mutations in the PTEN gene. Cowden Syndrome is a genetic condition that increases the risk of several types of cancers, particularly breast, thyroid, and endometrial cancers. The PTEN gene is a tumor suppressor gene that plays a critical role in regulating cell growth and preventing tumor formation. When mutations occur in this gene, it leads to the uncontrolled growth of cells, which is a hallmark of cancer development.

In the context of genetic counseling and risk assessment, identifying PTEN mutations is vital for patients and their families. Genetic testing for PTEN can help diagnose Cowden Syndrome and guide appropriate surveillance and management strategies for cancer prevention.

The other syndromes listed do not involve PTEN mutations. Hereditary Diffuse Gastric Cancer Syndrome is primarily linked to mutations in the CDH1 gene, which is associated with an increased risk of stomach cancer. Li-Fraumeni Syndrome is associated with mutations in the TP53 gene, and Familial Adenomatous Polyposis primarily involves mutations in the APC gene. Understanding the specific genetic underpinnings of these syndromes is essential for accurate diagnosis and effective management of hereditary cancer risks.