What causes Cowden syndrome?

What causes Cowden syndrome?

What causes Cowden syndrome? Cowden syndrome is a genetic syndrome usually caused by mutations in a gene known as PTEN. Mutations in this gene have been found in about 40-80 percent of people with a clinical diagnosis of CS and about half of all people with a clinical diagnosis of Bannayan-Ruvalcaba-Riley syndrome.

How common is Cowden syndrome?

Other common findings in Cowden syndrome are a large head size (macrocephaly) and a variety of small benign skin tags. Cowden syndrome occurs in an estimated 1 out of every 250,000 people. The diagnosis of Cowden syndrome is made when a patient meets specific criteria (signs) of the disease.

What does the PTEN gene do?

The PTEN gene helps stop the growth of tumors. It’s known as a tumor suppressor. A tumor suppressor gene is like the brakes on a car. It puts the “brakes” on cells, so they don’t divide too quickly.

Can Cowden syndrome be cured?

Currently, there is no cure for PHTS/Cowden syndrome. Patients undergo lifelong surveillance to monitor for benign and cancerous growths to help detect any problems at the earliest, most treatable point in time. It’s recommended that people with PHTS/Cowden syndrome have: Specialized breast cancer screening.

What is Gardner syndrome?

Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors , both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age.

Can thyroid turn cancerous?

Thyroid cancer develops when cells change or mutate. The abnormal cells begin multiplying in your thyroid and, once there are enough of them, they form a tumor. If it’s caught early, thyroid cancer is one of the most treatable forms of cancer.

What would happen if PTEN was mutated and lost its function?

Mutations in the PTEN gene reduce or eliminate the tumor suppressor function of the PTEN enzyme. The loss of this enzyme’s function likely permits certain cells to divide uncontrollably, contributing to the growth of cancerous tumors.

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.

How do you test for Gardner syndrome?

How is Gardner’s syndrome diagnosed? Your doctor may use a blood test to check for Gardner’s syndrome if multiple colon polyps are detected during lower GI tract endoscopy, or if there are other symptoms. This blood test reveals if there is an APC gene mutation.