Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome is caused by gene changes in the PTEN gene. The PTEN gene is a tumor suppressor gene, meaning that it in involved in making sure that cells do not overgrow or replicate too quickly. When there is a mutation in this gene, cells replicate over and over again, which causes a tumor formation. Some of the tumors found in BRRS are benign (non-cancerous) and some can be malignant (cancer-causing).

For more information, visit the "Symptoms" section for BRRS on ThinkGenetic.com or by visiting GeneReviews website for BRRS at https://www.ncbi.nlm.nih.gov/books/NBK1488/

If you have been diagnosed with Bannayan-Riley-Ruvalcaba syndrome, it is helpful to share your genetic test results with your family. Your siblings and children have a 50% chance of also having Bannayan-Riley-Ruvalcaba syndrome. They should consider having genetic testing and should be tested for the same mutation that you have.
If any family member would like to get tested for Bannayan-Riley-Ruvalcaba they can find a genetic counselor near them by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

There is an online support group called PTEN World that is a members only website that brings together all individuals who have a PTEN-associated condition including Bannayan-Riley-Ruvalcaba syndrome (BRRS). People living with the condition and their family members can easily sign up and access online discussion forms and online games for kids and teens. The PTEN Harmartoma Tumor Syndrome Foundation is also a helpful support group for Bannayan-riley-ruvalcaba syndrome.

Explaining Bannayan-Riley-Ruvalcaba syndrome (BRRS) to children may be difficult. It is important that the information is given in a way that is age-appropriate for the child, as well as learning level appropriate, as 50% of people with Bannayan-Riley-Ruvalcaba syndrome have intellectual disabilities.

People diagnosed with BRRS are generally encouraged to share this information with other family members, as 1st degree relatives (siblings, parents, and children) have a 50% chance of being affected as well.

Because BRRS can cause developmental delays or autism spectrum disorder in some individuals, it is important that this information is shared with school professionals and other educators so that proper education plans can be discussed. It may be helpful to meet one on one with these individuals and provide them with information about BRRS.

It may also be helpful to follow up the conversation with your child’s healthcare providers and/or a genetic counselor.

Details and fact sheets can be found at the PTEN Hamartoma Tumor Syndrome Foundation website at http://www.ptenfoundation.org

Discussion forums are also available at ptenworld.com

Genetic testing for Bannayan-Riley-Ruvalcaba syndrome (BRRS) can be done with a saliva sample or a blood sample. Some tests may require other forms of tissue sample. You can discuss this with your genetic counselor or geneticist. There are a few types of tests that you can choose from. The first is a single gene test that looks for changes only in the PTEN gene. Changes in the PTEN gene can cause BRRS. The second testing option is a multigene panel. This test will look for changes in the PTEN gene as well as a few other genes that may cause the symptoms seen in BRRS. Another option is to do whole-exome sequencing. This test looks at every part of the DNA that carries instructions for proteins. Changes in the instructions create proteins that aren’t formed correctly and can create problems for the body. This option is usually used if the previous two options did not reveal a diagnosis.
If you would like to get tested for Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

The most preventable symptoms of Bannayan-Riley-Ruvalcaba syndrome are the cancers. Someone diagnosed with Bannayan-Riley-Ruvalcaba syndrome (BRRS) has a higher chance of developing certain cancers. These cancers include thyroid, breast, kidney, endometrial (uterine), and colon. The best thing to do to stop these cancers from developing is to screen for them. This means having thyroid ultrasounds, mammograms, kidney MRIs, uterine ultrasounds, and colonoscopies, as often as your doctor recommends. Some people choose to have prophylactic surgeries, such as mastectomies, so that they have less to worry about. There is little research showing that cancer-preventing drugs (such as Tamoxifen) help prevent cancers for people with PTEN mutations. However that is also an option and should be discussed with your doctor.
There are no known medications that can prevent the non-cancerous growths that are commonly associated with BRRS. These growths include benign fatty tumors (lipomas), benign tumors of the hair follicle (trichilemmomas) and hemangiomas (mesh of blood vessels that cause the skin to look red or purple). The best way to monitor these growths is with yearly dermatology (skin) exams. There is a small chance that these growths can become cancerous, in which case they need to be surgically removed. While these growths can be removed prophylactically, doctors usually do not recommend this.
If you would like to learn more about treating Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

There are several specialist doctors that people with Bannayan-Riley-Ruvalcaba (BRRS) should see typically on (at least) a yearly basis. Due to the different skin changes that people with BRRS can have, you should see a skin doctor called a dermatologist. Since women are at increased for breast cancer and uterine cancer (also called endometrial cancer) they should see a gynecologist or obstetrician. Sometimes these doctors have a dual specialty and are obstetrician-gynecologists. Sometimes gynecologists also specialize in cancer of the reproductive organs like the uterus and the ovaries and they are called gynecologist-oncologists. Kidney (renal) cancer is more common and the specialist doctor you should see for management is called a nephrologist. Due to the increased risk for thyroid cancer, you should see a specialist doctor called an endocrinologist. Lastly, since growths in the colon are more common and can be severe, regular check-ups with a GI doctor (Gastroenterologist) are important.

Bannayan-Riley-Ruvalcaba syndrome is caused by mutations in the PTEN gene, which can cause excessive growth of cells. For this reason, it’s recommended that skin lesions are only removed if they are suspected to be dangerous, as they can regrow with keloid formations.

It is recommended that you speak with your healthcare provider, specifically a dermatologist, for any further questions.

You will most frequently see Bannayan-Riley-Ruvalcaba syndrome abbreviated as BRRS. Most websites and journal articles will let you know that they are abbreviating the name of the disease.

The life expectancy in Bannayan-Riley-Ruvalcaba syndrome (BRRS) remains an area for investigation. Due to the increased risk for the development of certain cancers at younger ages, it is thought that life expectancy may be reduced in BRRS. Due to the increased risk for breast cancer, it is thought that life expectancy for women with BRRS may be reduced. However, no consensus on average age of death has been reached. Potentially, with proper screening and management of symptoms, life expectancy for people living with BRRS may not be reduced.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition in which the affected person could have a large head and many benign tumors. BRRS is part of the broad spectrum of diseases caused by mutations in the PTEN gene. This spectrum includes diseases such as Cowden syndrome and PTEN-related Proteus syndrome.
Infants born with BRRS tend to have a large head and body size, but their excessive growth slows down as the child gets older. By the time they reach adulthood, they will have normal height and weight. A male with BRRS can also get dark freckles on his penis. People with BRRS can develop lipomas (benign fatty tumors) and hemangiomas- a mesh of abnormal blood vessels that make the skin red or purple. Benign hamartomatous polyps are common colon findings, with numbers ranging from a couple of polyps to hundreds. Adenomatous polyps are also common and these can become cancerous. Individuals with BBRS are also known to be at increased risk for certain cancers like breast cancer, thyroid cancer, endometrial cancer, colon cancer, kidney cancer, and melanoma.
Other symptoms include muscle abnormalities such as hypotonia (weak muscle tone), possible intellectual and developmental delays, thyroid problems, hyper-extensibility, and scoliosis.

The main symptoms of Bannayan-Riley-Ruvalcaba syndrome (BRRS) are benign growths in various parts of the body. The growths include lipomas (benign fatty tumors), intestinal polyps, trichilemmomas (benign tumors of hair follicles), hemangiomas (mesh of abnormal blood vessels that make the skin red or purple), and uterine fibroids (for women). Other benign tumors include thyroid tumors (thyroid adenoma) and papillomatous papules (small warts on the face, hands, and mouth)
The biggest health concerns for BRRS are the increased risks for certain cancers. People with BRRS have a 30% risk of developing thyroid cancer. They are also at an increased risk for kidney and colon cancer. Women have an increased risk of endometrial (uterine) cancer. They also have an increased risk for breast cancers. Since men have breast tissue, they also have an increased risk for breast cancer.
The best thing to do is to have yearly checkups with specialists that can look to see if any cancers have developed. It is recommended to have an ultrasound of your thyroid, and an MRI of your kidneys. Colonoscopies should also be done and your gastroenterologist will let you know how often. Uterine checkups are recommended for women. Mammograms or breast MRIs are recommended for both men and women.
If you would like to learn more about Bannayan-Riley-Ruvalcaba you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

The biggest health concerns for Bannayan-Riley-Ruvalcaba syndrome are the increased risks for certain cancers. People with Bannayan-Riley-Ruvalcaba syndrome have an approximately 35% risk of developing thyroid cancer. They are also at an increased risk for kidney and colon cancer. Women have an increased risk of endometrial (uterine) cancer. They also have an increased risk of breast cancers. Since men have little breast tissue, they also have an increased risk for breast cancer.
The recommended guidelines are to have yearly checkups with specialists that can look to see if any cancers have developed. It is recommended to have an ultrasound of your thyroid, and an MRI of your kidneys. Colonoscopies should also be done and your gastroenterologist will let you know how often. Uterine checkups are recommended for women. Mammograms or breast MRIs are recommended for both men and women.

Around 70% of people with Bannayan-Riley-Ruvalcaba syndrome have a change in the PTEN gene. Changes in the PTEN gene can also cause a spectrum of similar disease, including Cowden syndrome and PTEN-related Proteus syndrome.

The genetic test for Bannayan-Riley-Ruvalcaba syndrome (BRRS) looks for changes in the PTEN gene. When someone has genetic testing for BRRS, there are three types of results. The first type is positive. This means that a change was found in the PTEN gene that can cause BRRS. The second type of result is negative. This means that no change was found in the PTEN gene and it is functioning exactly as it should. The third type of result is inconclusive. This means that a change was found in the PTEN gene, but the research we have right now can’t determine if that change can cause BRRS or not. A VUS (variant of unknown significance) falls in the inconclusive category. Since this result doesn’t tell us anything, genetic counselors do not use it to determine medical management. Future research may help to recategorize the change.
Not all changes in the PTEN gene will cause BRRS. Changes in the PTEN gene can also cause a spectrum of similar conditions, such as Cowden syndrome and PTEN-related Proteus syndrome. That means that a correct diagnosis of Bannayan-Riley-Ruvalcaba syndrome also relies on symptoms.
The most important symptoms used to diagnose a patient include: big head (macrocephaly), colon and intestinal polyps, benign fatty tumors (lipomas), and dark freckles on the penis (for males).
If you would like to be tested for Bannayan-Riley-Ruvalcaba syndrome, you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

In general, people with Bannayan-Riley-Ruvalcaba syndrome have non-cancerous growths all over the body. The most important symptoms in adults include having a large head (macrocephaly) and dark freckles on the penis (for men). Scoliosis is also common, affecting about half of adults.
There is also a risk for developing benign tumors such as lipomas (fatty benign tumors), intestinal polyps, trichilemmomas (benign tumors of hair follicles), hemangiomas (mesh of abnormal blood vessels that make the skin red or purple), and uterine fibroids (for women).
People with BRRS are at an increased risk for certain cancers. There is a 30% risk of developing thyroid cancer, and a 25% chance for women to develop uterine cancer. There is also an increased risk of developing colon cancer, kidney cancer, and breast cancer for both men and women.
If you would like to learn more about Bannayan-Riley-Ruvalcaba you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is part of a spectrum of very similar diseases that are also caused by changes in the PTEN gene. The symptoms listed here only describe BRRS. In general people with BRRS have non-cancerous tumors on various parts of their bodies.
Important symptoms of BRRS include an enlarged head (macrocephaly) or a head that is abnormally longer than it is wide (dolichocephaly). People with BRRS have an increased birth weight and have hypotonia (weak muscles). A common symptom for males is dark freckles on the penis. People with BRRS develop benign tumors such as lipomas (fatty tumors), hemangiomas (mesh of abnormal blood vessels that make the skin red or purple), and intestinal polyps. Intellectual and developmental delays can also occur.
People with BRRS are at increased risk for some cancers. The risk for thyroid cancer is approximately 30%. A woman’s risk for endometrial cancer (in the uterus) is approximately 25%. There is also an increased risk for breast cancer, colon cancer, and kidney cancer.
If you would like to learn more about Bannayan-Riley-Ruvalcaba you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

In general, people with Bannayan-Riley-Ruvalcaba syndrome have non-cancerous growths all over the body. Toddlers (about 2 years old) with Bannayan-Riley-Ruvalcaba syndrome can display slightly different symptoms than an adult.
The important symptoms include having a large head (macrocephaly) and an increased birth weight (greater than 9 pounds). Children grow quickly, but by the time they reach adulthood, they will have an average height and weight. Boys often develop dark freckles on the penis. Children have an overall low muscle tone (hypotonia) and, for that reason, they have muscle problems. Children can also develop benign tumors such as lipomas (fatty tumors), and colon polyps. About half of children with BRRS may have intellectual or developmental delays.
Children are at an increased risk of developing Hashimoto’s thyroiditis, an autoimmune disorder that causes the body to attack the thyroid. They are also at high risk of developing eosinophilic gastrointestinal disorders, which can cause inflammation of the esophagus, stomach, and intestines. It can also cause diarrhea.
If you would like to learn more about Bannayan-Riley-Ruvalcaba you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

A person with Bannayan-Riley-Ruvalcaba syndrome (BRRS) has an increased risk for certain cancers. After being diagnosed with Bannayan-Riley-Ruvalcaba syndrome, you should go for baseline cancer checkups. A baseline cancer checkup is an examination done before any cancer starts in order to see what you normally look like. The doctor can compare this baseline checkup to the results of future checkups to see if any new cancer has developed. Cancers to look out for include: thyroid, colon, kidney, endometrial (uterine), and breast.
Baseline checkups include thyroid ultrasounds, colonoscopies, and kidney MRIs. For women, uterine examinations and mammograms are also suggested. Both men and women are at risk for breast cancer, so men should also check their breasts.
Non-cancerous growths are common symptoms of BRRS. These growths include benign fatty tumors (lipomas), benign tumors of the hair follicle (trichilemmomas) and hemangiomas (mesh of blood vessels that cause the skin to look red or purple). Yearly dermatology (skin) exams are recommended to keep an eye on these growths, since there is a small chance that they can become cancerous.
A child diagnosed with Bannayan-Riley-Ruvalcaba syndrome, should be evaluated for developmental delay, since it is commonly seen in children with this syndrome.
There are also a few clinical trials taking place in different countries that are looking at the effects of different cancer drugs on people who have cancer and a PTEN mutation.
If you would like to learn more about managing Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

When a couple, neither of whom have Bannayan-Riley-Ruvalcaba syndrome, have a baby with Bannyan-Riley-Ruvalcaba syndrome, the genetic change occurred for the first time in that baby. This is known as a de novo gene change. When a genetic change is de novo, it is unlikely to occur again in a future pregnancy. There are rare instances, however, of an unaffected couple having more than one affected baby. This is due to a condition known as germline, or gonadal, mosaicism. In gonadal mosaicism, a gene change can be found in the reproductive cells (sperm or egg cells) of an individual that is not present in the cells of the rest of their body. Individuals with germline mosaicism can produce multiple egg or sperm cells that carry a gene change. There is a slightly increased risk for an unaffected couple to have subsequent offspring with Banayyan-Riley-Ruvalcaba syndrome. This chance likely does not exceed 1% with each subsequent pregnancy.

Someone diagnosed with Bannayan-Riley-Ruvalcaba syndrome (BRRS) has a high chance of developing certain cancers. But it is important to remember that they will not automatically develop cancer. In fact, they are much more likely to develop non-cancerous growths in various parts of the body. These growths include lipomas (benign fatty tumors), intestinal polyps, trichilemmomas (benign tumors of hair follicles), hemangiomas (mesh of abnormal blood vessels that make the skin red or purple), and uterine fibroids (for women). Other benign tumors include thyroid tumors (thyroid adenoma) and papillomatous papules (small warts on the face, hands, and mouth).
Someone with BRRS has an increased risk to develop certain cancers. There is an approximately 35% chance of developing thyroid cancer and approximately 25% chance to develop uterine cancer (in women). There is an increased chance for colon cancer and kidney cancer. There is also an increased chance of breast cancer for both men and women, since men also have breast tissue.
If you would like to learn more about Bannayan-Riley-Ruvalcaba you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

There are established clinical screening guidelines for children under the age of 18 who have Bannayan-Riley-Ruvalcaba syndrome. They include the following:

There is currently no newborn testing for Bannayan-Riley-Ruvalcaba syndrome (BRRS). However, prenatal testing is possible if the baby’s family is known to have a mutation that causes BRRS. The test will check to see if the fetus has the same mutation. When the baby is born, it can get tested for BRRS through a blood or saliva sample. This test will also check to see if the fetus has the same mutation.
If you would like to get prenatal testing for Bannayan-Riley-Ruvalcaba syndrome, you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

Currently, the only testing available for Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic test. BRRS is caused by changes in the PTEN gene. The test will check to see if there are any changes in the PTEN gene. Changes in the PTEN gene can also cause a spectrum of similar conditions, such as Cowden syndrome and PTEN-related Proteus syndrome. That means that a correct diagnosis of BRRS also relies on symptoms.
The most important symptoms used to diagnose a patient include: big head (macrocephaly), colon and intestinal polyps, benign fatty tumors (lipomas), and dark freckles on the penis.
Genetic testing for BRRS can be done with a saliva sample or a blood sample. There are a few types of tests that you can choose from. The first is a single gene test that looks for changes only in the PTEN gene. Changes in the PTEN gene can cause BRRS. The second testing option is a multigene panel. This test will look for changes in the PTEN gene as well as a few other genes that may cause the symptoms seen in BRRS. Another option is to do whole-exome sequencing. This test looks at every part of the DNA that carries instructions for proteins. Changes in the instructions create proteins that aren’t formed correctly and can create problems for the body. This option is usually used if the previous two options did not reveal a diagnosis.
If you would like to get tested for BRRS you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

A good resource to use to see if there is clinical research happening for Bannayan-Riley-Ruvalcaba syndrome (BRRS) is [link url="clinicaltrials.gov” target=”_blank”>clinicaltrials.gov in the United States and [link url="www.clinicaltrialsregister.eu” target=”_blank”>www.clinicaltrialsregister.eu in Europe.

There is currently no FDA-approved treatment for Bannayan-Riley-Ruvalcaba syndrome (BRRS). People with Bannayan-Riley-Ruvalcaba syndrome often have benign growths on various parts of their bodies. These growths include benign fatty tumors (lipomas), benign tumors of the hair follicle (trichilemmomas) and hemangiomas (mesh of blood vessels that cause the skin to look red or purple). Many of the growths seen in BRRS can be surgically removed, but surgery is recommended only if the growths become cancerous. Yearly dermatology (skin) exams are recommended.
It is recommended that people diagnosed with Bannayan-Riley-Ruvalcaba syndrome follow the standard cancer screenings for Cowden syndrome. Both Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are caused by mutations in the PTEN gene. They are part of a spectrum of similar diseases that have increased risks for certain cancers.
The yearly cancer screenings include thyroid ultrasounds (to check for thyroid cancer), kidney ultrasounds (for kidney cancer), mammograms (for breast cancer in both men and women), uterine ultrasounds (for uterine cancer in women). Other checkups include yearly skin exams with a dermatologist to monitor skin findings such as hemangiomas (a mesh of abnormal blood vessels that make the skin red or purple). Colonoscopies should begin at 35 years old. Your gastroenterologist will let you know how often you should have them.
If you would like to learn more about treating Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

Women with Bannayan-Riley-Ruvalcaba syndrome (BRRS) have a gene change in the PTEN gene. The PTEN gene increases the risk of endometrial (uterine) polyps (benign growths). Endometrial polyps may affect female reproductive health and may make it harder to get pregnant. It is important that women with a known PTEN gene change, such as in BRRS, follow proper medical management guidelines to ensure uterine health for pregnancy planning.

Details about female medical management guidelines can be found at the PTEN Hamartoma Tumor Syndrome Foundation website.

Prenatal diagnosis is possible for at-risk pregnancies if the known gene change in the PTEN gene is already established. For some families, preimplantation genetic diagnosis may be considered.

Prenatal diagnosis is possible for pregnancies at-risk of Bannayan-Riley-Ruvalcaba syndrome (BRRS). These procedures include chorionic villus sampling (CVS) between 10-13 weeks of pregnancy and/or amniocentesis after 16 weeks preganncy. For some families, preimplantation genetic diagnosis (PGD) may be considered. The benefits, risks, and limitations of all prenatal diagnostic options should be discussed with your physicians and providers to ensure an informed decision is made.

If you would like to learn about prenatal testing options for Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

As of 2020, Bannayan-Riley-Ruvalcaba syndrome is known to affect people from all races and ethnic backgrounds. It is not common to just one part of the world or to just one ethnicity.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is genetic condition in which the affected person could have a large head and many benign tumors. BRRS is part of the broad spectrum of diseases caused by mutations in the PTEN gene. This spectrum includes diseases such as Cowden syndrome and PTEN-related Proteus syndrome. Diseases in this spectrum have been known to cause cancer.

People with BRRS develop benign tumors such as lipomas (benign fatty tumors), hemangiomas (mesh of abnormal blood vessels that make the skin red or purple), and intestinal polyps. However, people with BRRS are at risk of developing certain cancers. They have an approximately 35% risk of developing thyroid cancer. They are also at an increased risk for kidney and colon cancer. Women have an increased risk of endometrial (uterine) cancer. They also have an increased risk of breast cancers. Since men have breast tissue, they also have an increased risk for breast cancer.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by changes (mutations) in the PTEN gene. We all have two copies of the PTEN gene, one from our mother and one from our father. If one of these two copies doesn’t work, the person can develop BRRS. Either parent can pass down the copy that doesn’t work, and it happens randomly. We cannot control which copy we pass down to our children. If a parent has Bannayan-Riley-Ruvalcaba syndrome, there is a 50% chance that each of his or her children will also have it. If someone has BRRS, there is a 50% chance that his or her siblings will have it too. This means that it is also possible for aunts, uncles, grandparents, and other family members could also have BRRS.
If you or your family would like to get tested for Bannayan-Riley-Ruvalcaba syndrome, you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is considered to be a rare disease. It is unknown how many people have BRRS, but it is believed to occur in all racial and ethnic groups.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by changes (mutations) in the PTEN gene. We all have two copies of the PTEN gene, one from our mother and one from our father. If one of these two copies doesn’t work, the person can develop BRRS. If a parent has BRRS, there is a 50% chance that each of his or her children will also have it. This is called autosomal dominant inheritance.
It is important to note that mutations in the PTEN gene can cause a spectrum of similar conditions such as Cowden syndrome and PTEN-related Proteus syndrome. To help make sure that you’re looking only at BRRS, you should look to see if the child has inherited the same mutation that the parent has.
If you would like to see if Bannayan-Riley-Ruvalcaba syndrome runs in your family, you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

The best way to diagnose Bannayan-Riley-Ruvalcaba syndrome is through a genetic test. A genetic counselor can order a genetic test for you. You will either give blood or saliva, and it will be sent to a lab that will examine your DNA. The test will check to see if there are any changes in the PTEN gene. Changes in the PTEN gene can also cause a spectrum of similar conditions, such as Cowden syndrome and PTEN-related Proteus syndrome. That means that a correct diagnosis of Bannayan-Riley-Ruvalcaba syndrome also relies on symptoms.
The most important symptoms used to diagnose a patient include: big head (macrocephaly), colon and intestinal polyps, benign fatty tumors (lipomas), and dark freckles on the penis.
If you would like to get tested for Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

You can donate to research on Bannayan-Riley-Ruvalcaba by visiting these websites:

The best way to diagnose Bannayan-Riley-Ruvalcaba syndrome is through a genetic test. A genetic counselor can order a genetic test for you. You will either give blood or saliva, and it will be sent to a lab that will examine your DNA. The test will check to see if there are any changes in the PTEN gene. The genetic counselor will receive the results and explain what they mean according to your healthcare. A diagnosis is made based on your genetic test results and your symptoms.
If you would like to get tested for Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

In the United States, a good resource to find clinical research on Bannayan-Riley-Ruvalcaba syndrome (BRRS) is at the website [link url="clinicaltrials.gov” target=”_blank”>clinicaltrials.gov. In Europe, a good resource is [link url="www.clinicaltrialsregister.eu” target=”_blank”>www.clinicaltrialsregister.eu.

The best place to find experts on Bannayan-Riley-Ruvalcaba syndrome (BRRS) would be to locate a center of excellence. Currently, there is not a center of excellence specifically in Bannayan-Riley-Ruvalcaba syndrome. However, in 2018, the PTEN Hamartoma Tumor Syndrome Foundation announced a formal application process for medical centers to apply to become a center of excellence for the treatment and management of PTEN Hamartoma Tumor syndromes which includes BRRS. At this time, applications are still being accepted. However, Cleveland Clinic and Boston Children’s Hospital have both applied to be Centers of Excellence and both institutions are endorsed by the PTEN Hamartoma Tumor Syndrome Foundation for patients for BRRS.

Currently, there is not a center of excellence specifically in Bannayan-Riley-Ruvalcaba syndrome (BRRS). However, in 2018, the PTEN Hamartoma Tumor Syndrome Foundation announced a formal application process for medical centers to apply to become a center of excellence for the treatment and management of PTEN Hamartoma Tumor syndromes which includes BRRS. At this time, applications are still being accepted. Cleveland Clinic and Boston Children’s Hospital have both applied to be Centers of Excellence and both institutions are endorsed by the PTEN Hamartoma Tumor Syndrome Foundation for patients for BRRS.

The online support group, PTEN World, is a members only community for anyone living with a PTEN-associated condition including Bannayan-Riley-Ruvalcaba syndrome (BRRS). Members have access to online discussion forms and kids and teens have access to online games to connect with other children their age.

Clinical practice and medical management guidelines exist for breast cancer screening for women with Bannayan-Riley-Ruvalcaba syndrome.

For women:

To advocate for yourself or loved one with Bannayan-riley-ruvalcaba syndrome it is important to be familiar with the most recent NCCN guidelines for screening and medical management of PTEN hamartoma tumor syndromes. The NCCN, National Comprehensive Cancer Network, provides clinical practice guidelines for proper treatment and management for all types of cancer. The PTEN Foundation also provides a free online patient brochure that can be shared with physicians. This information can be found at PTENfoundation.org.

Around 70% of individuals diagnosed with Bannayan-Riley-Ruvalcaba syndrome have a mutation in the PTEN gene.

Current research shows that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is only caused by changes in the PTEN gene. If someone doesn’t have a change in the PTEN gene, they cannot have BRRS. This means that if someone has BRRS, they have to have a change in the PTEN gene. However, it is possible for someone with a PTEN gene change to not have BRRS. It is estimated that in less than 1% of cases, someone with a PTEN gene change does not show any signs or symptoms of BRRS. This also means that 99% of the time, someone with a PTEN mutation will show symptoms.
Bannayan-Riley-Ruvalcaba syndrome is associated with a wide variety of symptoms. Someone with BRRS will not show every symptom. Each person will show different symptoms, which can sometimes make it difficult to diagnose. The most important symptoms used to diagnose a patient include: big head (macrocephaly), colon and intestinal polyps, benign fatty tumors (lipomas), and dark freckles on the penis.
If you would like to see if Bannayan-Riley-Ruvalcaba syndrome runs in your family, you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

The most common symptoms of Bannayan-Riley-Ruvalcaba syndrome (BRRS) are benign growths. However there is a small chance that these growths can become cancerous. So it is important to avoid things that can cause cancer. People with BRRS have an increased risk for certain cancers, including thyroid and breast cancer. Avoiding things that can cause cancer will help to reduce this risk. Some things that can cause cancer include tobacco/smoking, excessive drinking, too much UV, excessive use of a tanning bed, poor diet, not enough exercise, obesity, and industrial chemicals.
It is important to remember that even if you avoid these things, you can still develop cancer. It is important to continue to go for cancer checkups. If you would like to learn more about treating Bannayan-Riley-Ruvalcaba syndrome you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.

Other names for Bannayan-Riley-Ruvalcaba syndrome include:

The PTEN Harmartoma Tumor Syndrome Foundation is a helpful support group for Bannayan-riley-ruvalcaba syndrome. The PTEN Hamartoma Tumor Syndrome Foundation was founded to find treatments or therapies for PTEN Syndromes by funding research, providing PHTS education, supporting patients, and by raising awareness. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome.
The website is ptenfoundation.org.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) can appear similar to other related conditions, which are also caused by mutations in the PTEN gene.
A unique feature in BRRS, that can help differentiate BRRS from other PTEN-related disorders is that men typically have freckling on the penis.

If you have concerns about yourself or a family member having BRRS, it is recommended to speak with your healthcare provider or have an evaluation by a medical geneticist.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition in which the affected person could have a large head and many benign tumors. BRRS is part of the broad spectrum of diseases caused by mutations in the PTEN gene. This spectrum includes diseases such as Cowden syndrome and PTEN-related Proteus syndrome. These diseases are very similar to BRRS. The key symptoms that distinguish BRRS from the other syndromes include a large head (macrocephaly), dark freckles on the penis (for men), and benign growths such as intestinal polyps and lipomas (benign fatty tumors).
If you would like to learn more about Bannayan-Riley-Ruvalcaba you can find a genetic counselor near you by using the Ask a Genetic Counselor Tool on the National Society of Genetic Counselors website. This tool is for North American-based genetic counselors.