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Also called: basal cell nevus syndrome (BCNS), gorlin syndrome, gorlin-goltz syndrome, NBCCS
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder that can be passed down from parents to their children (inherited). People who have this disorder have a greater risk of developing certain types of cancer. They may develop tumors that can be either cancerous (malignant) or non-cancerous (benign).
Because this syndrome affects many parts of the body, tumors may develop in the:
People with NBCCS are at higher risk for cancerous tumors such as:
People with NBCCS also have a higher risk for these non-cancerous tumors:
Although people with NBCCS are at a higher risk for tumors, some people never develop them.
People with NBCCS may have some or all of the following:
Most people with NBCCS have only some of these features.
NBCCS is caused by changes in 1 of 3 genes that make it not work correctly. These genes are called PTCH1, PTCH2, or SUFU. They carry important information that controls how cells grow, divide, and die. They also help an embryo develop during pregnancy, especially development of the jaw, skin, and brain.
Most people without NBCCS carry 2 normal copies for each of the PTCH1, PTCH2, and SUFU genes in their cells. One copy is inherited from the mother, and the other comes from the child’s father.
Children who do have NBCCS inherit 1 normal copy of PTCH1, PTCH2, or SUFU and 1 other copy of one of these genes that is changed (mutated). This mutation causes the gene to not work right. So, it is harder for cells to control their growth and functions.
Most children with NBCCS inherit their mutation from a parent who also has the disorder. About 20–30% of children have a new mutation that did not come from a parent. These children have no history of this disorder in their family. In these cases, the change happened either in:
These children are the first in their families to have NBCCS.
As people with NBCCS get older, the remaining, normal copy of the PTCH1, PTCH2, or SUFU gene might change within some of their cells. When that happens, it is hard for cells to control their growth, and tumors may develop. People with NBCCS may have changes to their cells in places like the skin or the brain. This is why people with NBCCS have a greater risk of developing tumors such as basal cell carcinomas or medulloblastoma.
A health care provider may suspect that your child has NBCCS after studying their medical and family cancer history.
This information helps the health care provider and the genetic counselor know if:
Your child may also need MRI, x-rays, ultrasounds, or evaluation by other specialists.
Your provider or genetics counselor may recommend genetic testing if they suspect NBCCS. Learn more about types of genetic tests.
A blood sample is sent to a genetic testing lab. The lab runs genetic tests that look for changes in the PTCH1, PTCH2, and SUFU genes.
If your child has a mutation in 1 of these genes, a genetic counselor will work with your family to:
No matter how people with NBCCS got their PTCH1, PTCH2, or SUFU mutation, they have a 50% (1 in 2) chance of passing it on to their children. Parents can get prenatal testing to find out if their pregnancy is affected by a known PTCH1, PTCH2, or SUFU mutation.
Testing may take place before pregnancy occurs or after the embryo has formed.
You should work with a genetic counselor to review the pros and cons of the test. The genetic counselor can also help you prepare for the test results.
Testing before pregnancy is called preimplantation genetic testing (PGT). This special type of genetic testing is done along with in vitro fertilization (IVF). PGT tests embryos for a known PTCH1, PTCH2, or SUFU mutation before a provider places the embryo into the uterus.
Testing during pregnancy can help providers see if a pregnancy has a known PTCH1, PTCH2, or SUFU mutation. A doctor gathers cells from the pregnancy in 1 of 2 ways:
After tissue collection, the lab checks the sample for a mutation in PTCH1, PTCH2, or SUFU. Both tests carry minor risks. Discuss these risks with an experienced health care provider or a genetic counselor.
Take time to think carefully about the benefits and risks of genetic testing. Speak with a genetic counselor before testing. If you decide to get tested, talk with your health care provider or a genetic counselor about your results so you can understand what they mean.
Sometimes, children or adults with NBCCS feel sad, anxious, or angry after getting their test results. Parents may feel guilty if they pass a mutation in PTCH1, PTCH2, or SUFU genes to 1 or more of their children. People with mutations in these genes may also have trouble getting disability or life insurance.
Read more about genetic discrimination.
Monitoring and follow-up care for NBCCS depends on how severe the disease is, the location of any tumors that may arise, and a person’s overall health. Care may involve managing symptoms with medications and surgical removal of any cancerous tissues or tumors. It may also include other treatments such as chemotherapy to fight any cancers that may develop.
Radiation treatment for NBCCS patients should be avoided if possible.
Because NBCCS is a complex condition, parents should discuss screening options for their child with an experienced doctor who knows this condition well. The goal of screening is to find and treat tumors early. Doing so allows the best outcome for patients. There are clinics throughout the country that specialize in taking care of people with NBCCS.
It is also important that parents also work with a genetic counselor to find experienced health care providers for their child. To find a genetics counselor in your area, visit Personalized Care for Your Genetic Health.
Anyone with this syndrome should be regularly screened. Screening helps us find and treat tumors early so patients have the best outcomes. It can also prevent the growth of tumors that could change a person’s appearance.
We recommend these tumor screenings:
As we learn more about NBCCS, the recommended screenings may change. This is why it is important to get care from a health care provider who has experience monitoring and treating this syndrome.
People with NBCCS have a higher risk for cancer and tumors and should watch closely for general signs or symptoms listed above. They should talk to their care provider if they notice anything unusual. They should monitor their health and adopt healthy habits throughout their lifetime. We recommend that they have regular physical checkups and screenings. When cancer is detected early, we are better able to treat it.
It is critical that people with nevoid basal cell carcinoma syndrome avoid exposure to radiation. When x-rays are needed, people should find a center that can do digital x-rays.
People with NBCCS should be careful about sun exposure:
Learn more about how to prevent skin cancer.
People with NBCCS should watch closely for signs and symptoms that could signal tumors, including:
It is important to seek medical help if anything unusual appears.
Habits that will help you maintain a healthy lifestyle include:
The St. Jude Cancer Predisposition Program is dedicated to diagnosing and screening children with a genetic predisposition for cancer. Our program offers the best clinical care possible. We engage in cutting-edge research to gain more information about genetic disorders and cancer, and to improve the care and treatment for patients who are affected by these conditions.
Our genetic counselors, clinicians, genetics nurse practitioners, and research assistants work together to provide patients with:
NBCCS increases your child’s risk for tumors and, less commonly, certain cancers. Visit Diseases Treated to learn more about how we treat specific cancer types.
St. Jude offers clinical trials and cancer research studies for children, teens, and young adults who have cancers associated with NBCCS.
Learn more about clinical research at St. Jude.
Study goal:
To learn more about participants beliefs, attitudes, and questions about gene therapy to help make web-based resources to share information. This could help patients make treatment decisions.
Age:
18 to 35 years old with rare genetic diseases
Study goal:
The main goal of this study is to learn more about the reasons childhood tumors form and how to treat them better.
Diagnosis:
Study goal:
To provide a high-quality repository of tumor and normal samples to facilitate translational research performed by St Jude faculty and their collaborators
Diagnosis:
Study goal:
1) Test each patient for hundreds of gene variations that might be important for drug use. All of the gene test results will be in the research laboratory, but as time goes on, the study will evaluate scientific evidence and selectively move test results for a few genes into the medical record if the evidence strongly shows that the result can help in better prescribing of drugs for patients; 2) Estimate how often pharmacogenetic test results are moved from research tests into a patient’s medical record; 3) Use methods to choose which of these tests should be put in the medical record; 4) Use computer-based tools in the electronic medical record to help doctors use gene test results when prescribing drugs; 5) Share feelings and concerns of patients and their families about gene test information being put in their medical record.
Study goal:
The main purpose of this trial is to learn about the genetic causes of cancer.
Diagnosis:
Age:
Younger than 50 years old
Study goal:
To collect data about how Friedreich’s ataxia progresses over time and affects the daily life of patients.
Diagnosis:
Age:
Any
Patients accepted to St. Jude must have a disease we treat and must be referred by a physician or other qualified medical professional. We accept most patients based on their ability to enroll in an open clinical trial.
Call: 1-888-226-4343 (toll-free) or 901-595-4055 (local) | Fax: 901-595-4011 | Email: referralinfo@stjude.org | 24-hour pager: 1-800-349-4334
If you have questions about the Genetic Predisposition Clinic and care for NBCCS, email our team at GPTeam@stjude.org.