What gene causes Cowden syndrome?
People with Cowden syndrome have an increased risk of developing certain types of cancer, including melanoma and cancers of the breast, thyroid, endometrium, kidney, colon, and rectum. Cowden syndrome is usually caused by mutations (changes) in the PTEN gene. Also called Cowden disease and multiple hamartoma syndrome.
Is Cowden syndrome rare?
This page was updated on February 28, 2022. Cowden syndrome (CS), also known as Cowden’s disease and multiple hamartoma syndrome, is a rare inherited disorder that causes benign, or noncancerous, growths in various places on the body.
What does PTEN positive mean?
Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the PTEN gene. Both of these results should be considered positive.
How is Cowden syndrome inherited?
Cowden syndrome and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition and increase the risk of developing cancer. In some cases, an affected person inherits the mutation from one affected parent .
How is PTEN mutation treated?
Some cancers caused by PTEN mutations may be treated with targeted therapy. Targeted therapies attack specific areas or substances in cancer cells. These therapies may be more effective and cause fewer side effects than traditional chemotherapy.
Is there a cure for PTEN?
Currently there are no cancer treatments approved specifically for people with a PTEN mutation, nor guidelines for treating cancer specifically for people with an inherited PTEN mutation. However, experts are conducting research studies to learn which treatments may work best for people with a PTEN mutation.
Is PTEN a rare disease?
Peutz Jeghers syndrome is a rare, inherited gastrointestinal disorder characterized by the development of polyps on the mucous lining of the intestine and dark discolorations on the skin and mucous membranes.