Genetic Conditions related to Brain Tumors

Some genetic mutations can make people more likely to develop central nervous system tumors. These mutations may be inherited from parents. Sometimes, they occur randomly when an egg or sperm cell is formed or very soon after they join to form an embryo.

Whether the mutation was inherited or spontaneous, it has now become part of the person’s genetic makeup and can be passed down to future children. This is different than genetic mutations that occur because of exposure to carcinogens, like tobacco smoke, or that happen because of copying mistakes during cell replication; these types of genetic mutations are not passed down.

Hollings neuro-oncologists are very familiar with the genetic disorders that can cause central nervous system tumors and regularly work with people living with these conditions.

Hollings is also home to the Hollings Hereditary Cancer Clinic, one of the first clinics of its kind in the U.S. This clinic helps people with inherited conditions to understand and manage their risk of cancer.

Some genetic conditions that can lead to brain tumors include:

Neurofibromatosis

There are three types of neurofibromatosis: NF1, NF2 and Schwannomatosis. NF1 is the most common type. About 100,000 people in the U.S. have this condition.

All three types are caused by mutations in genes that produce proteins that usually prevent cells in the nervous system from growing out of control. With the mutation, the proteins no longer keep cell growth in check. This results in tumors growing along nerve cells anywhere in the body. Often, tumors called neurofibromas develop on nerves just under the skin or elsewhere in the brain or spinal cord. Plexiform neurofibromas can develop anywhere in the body within the tissue that surrounds nerves. Tumors may also grow on the optic nerve or the meninges (the tissues covering the brain).

The tumors caused by neurofibromatosis are usually benign, but they can be painful and can cause side effects; for example, tumors on the optic nerve can interfere with vision. Hollings neuro-oncologists will work with you to treat tumors as necessary to promote good quality of life.

Because people with NF1 are also at increased risk of other types of cancers, such as breast cancer or leukemia, it’s also important to work with the specialists at the Hollings Hereditary Cancer Clinic, who can help you to determine the types of screenings and preventive steps you can take to reduce your risk.

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a rare hereditary condition. It’s not clear how many people have this condition, and estimates range from about 17,000 to 66,000 people in the U.S.

People with Li-Fraumeni syndrome have a mutation in the TP53 gene, which contains the instructions for building tumor protein 53 (p53). p53 is an important protein; it assesses cells with damaged DNA and decides whether they can be repaired or should be destroyed. When p53 isn’t working properly, it doesn’t tell damaged cells to self-destruct, and they can start to divide and grow out of control, becoming cancer.

About half of all cancer cases involve a mutation in p53 but, most of the time, the mutation developed over the course of the patient’s life. People with Li-Fraumeni syndrome are born with this mutation.

Those with Li-Fraumeni syndrome are at risk of several types of cancer, including brain tumors. Hollings neuro-oncologists work with specialists at the Hollings Hereditary Cancer Clinic to provide extra monitoring and screening for people with Li-Fraumeni syndrome so that brain tumors can be found earlier.