Peutz-Jeghers syndrome

February 3, 2023

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Peutz-Jeghers syndrome (PJS) is a rare, inherited condition that affects multiple systems of the body, including the digestive system and skin. PJS is caused by mutations in the STK11 gene, which provides instructions for making a protein called serine/threonine kinase 11. This protein helps regulate cell growth and division.

People with PJS develop multiple polyps (growths) in the digestive tract, especially in the small intestine, which can increase the risk of developing cancer, particularly colorectal cancer. People with PJS may also develop distinctive dark brown or black spots on their lips, mouth, and skin.

The diagnosis of PJS is usually made through a combination of genetic testing, medical history, and physical exam, as well as through imaging tests and other diagnostic tests. Management of PJS may include regular monitoring for polyps and tumors, as well as surgery to remove affected tissues. In some cases, preventive surgery to remove the entire colon may be necessary to reduce the risk of colorectal cancer. Early diagnosis and management are important to prevent or minimize the effects of the condition and to reduce the risk of long-term complications, such as heart disease, stroke, and damage to the eyes, nerves, and kidneys.

NutraHacker examines the following gene related to Peutz-Jeghers syndrome:

For more information about your own genetic profile as related to Peutz-Jeghers syndrome, please check out our NutraHacker Critical Genetics Basic Report Description.

Or to get going without any further delay, upload raw DNA data and find out more about your Peutz-Jeghers syndrome profile today.