PTCH1 is a gene that provides instructions for producing a protein called patched-1.
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If You Carry the PTCH1 Mutation, What Are You at Risk For?
A PTCH1 mutation is associated with Gorlin syndrome, which is also called nevoid basal cell carcinoma syndrome (NBCCS).
This hereditary disorder increases your risk for developing basal cell skin cancers, along with other issues, including:
- Cysts in the jaw
- Bone abnormalities
- A larger-than-normal head size
- Extra fingers or toes
- Intellectual disabilities
- Skin pits on the hands and feet
- Abnormal deposits of calcium in the brain
- An increased risk for medulloblastoma (a type of childhood brain tumor)
- Other tumors or abnormalities
Mutations in the PTCH1 gene may also increase your risk of developing other types of cancer, according to My Cancer Genome.
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How Does PTCH1 Increase Your Risk of Cancer?
PTCH1 gives commands for making the patched-1 protein. The patched-1 protein interacts with another protein called Sonic Hedgehog (SHH). Together, they prevent cells from growing in an uncontrolled way that would allow cancer to form in the body more readily.
Can You Be Tested for PTCH1?
Yes, you can be tested for a PTCH1 gene mutation.
Your doctor might recommend a gene test if you have certain features of Gorlin syndrome or are at high risk.
Typically, the test will involve providing a sample of blood or saliva to analyze in the lab.
You might want to see a genetic counselor to help you interpret your results.
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Why Is It Important to Know if You Are at Risk for PTCH1?
Knowing you have a PTCH1 defect can provide you with important information about your chances of developing cancer or other health problems. You can also alert family members who may be at risk.
If you have a PTCH1 mutation, you have up to a 90 percent chance of developing multiple basal cell skin cancers. Up to 5 percent of children with Gorlin syndrome may develop a medulloblastoma.
Every person inherits two copies of the PTCH1 gene from their parents. Mutations in one copy are associated with an increased risk of cancer or other features of Gorlin syndrome.
There’s a 50/50 chance that you’ll pass on a PTCH1 mutation to your children.
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History of the PTCH1 Gene: When Was It Discovered?
Researchers discovered that the PTCH1 gene played a role in Gorlin syndrome in 1996.
What if You Test Positive for PTCH1?
If you test positive for a PTCH1 gene mutation, you and your doctor may decide to pursue early detection and screening methods for cancer or other health concerns.
Your physician might recommend:
- Annual skin exams
- Physical and developmental assessments (for kids)
- X-rays of your jaw
You might also want to be vigilant about protecting your skin from the sun by wearing protective clothing and sunscreen when outdoors.