Nijmegen breakage syndrome (NBS)

The geneticist and the genetic counselor will likely ask you if there are any questions before and after the exam. Sometimes the genetic counselor will come into the exam room before the geneticist in order to go over some information before, and to answer questions. This depends on the clinic. To be the best prepared for the visit it is beneficial to write down questions you have before the appointment because it is easy to forget them.

If you have a child found to have Nijmegen breakage syndrome, there is a 25% (1 in 4) chance with every pregnancy to have another child with the same condition. You can test further pregnancies or children at birth for this condition. Since this condition is inherited, you and your partner should also have testing for the same mutations found in your child. People who have a mutation in only one copy of the NBN gene are called carriers. This means that they carry one mutation but do not show symptoms of Nijmegen breakage syndrome. These individuals may be at increased risk for various types of cancers and should discuss their carrier status with their doctor or genetic counselor. In addition, you and your partner’s siblings, parents, and other relatives can consider testing for the same genetic mutations to learn more about their risks.

[link url="” target=”_blank”>Orpha.net is a great option to learn more about clinical trials and research projects going on in Nijmegen breakage syndrome throughout the world. You can also ask your doctor and/or genetic counseling to learn more about the options available to you.

PubMed is a great resource for current publications in Nijmegen breakage syndrome. Often support groups also do a great job of distributing information about research in a specific condition in easier to understand formats.

You can learn more about variants of uncertain significance through the various laboratories that offer genetic testing. Many laboratories explain their processes for interpreting variants found in their tests. There is a very strict criteria developed by the American College of Medical Genetics (ACMG). This criteria attempts to ensure that each laboratory is interpreting these variants in the same way.

Support organizations are good resources to find other people with the same condition as you. These organizations can help connect you with other families and individuals with Nijmegen breakage syndrome.

The Parent Technical Assistance Center Network provides a list of training and information centers. These centers provide information on early intervention (EI) services and other training for parents who are taking care of children with disabilities. This site provides information on centers in states across the United States.

Women with a mutation in one NBN gene are at increased risk for breast cancer. However, these risks are not well defined. Men with a mutation in one NBN gene are at increased risk for prostate cancer. However, these risks are not well defined. There may also be additional risk for some other cancers in both men and women, but these risks are not well defined. These people should speak with their doctor and/or genetic counselor in order to learn more about their risks.

You should see specialists who are experts in rare diseases, specifically those that are experts in primary immunodeficiencies. [link url="” target=”_blank”>Orpha.net provides information on centers of expertise throughout the world. These centers have doctors and other specialists who are experts in their fields.

There is the option to have genetic testing done before you are even pregnant. This is called preimplantation genetic diagnosis (PGD). It involves invitro fertilization and testing the fertilized embryos before they are implanted. Then only the embryos that do not have the genetic mutations causing Nijmegen breakage syndrome (NBS) would be implanted. This can be done if the two mutations causing NBS have been identified in the family. There is also the option to do egg or sperm donation by a donor who does not have a genetic mutation in the gene causing NBS.

Nijmegen breakage syndrome can be abbreviated NBS.

Unfortunately, the prognosis for individuals with Nijmegen breakage syndrome (NBS) is still poor. About half of children with Nijmegen breakage syndrome will develop non-Hodgkin lymphoma by the age of 15. Cancer is the cause of the majority of deaths in Nijmegen breakage syndrome. However, recurrent infections also decrease life expectancy because they can lead to kidney or liver insufficiency, bone marrow complications, or respiratory failure. Currently, the life expectancy for NBS is about 30-40 years. The longest living individual reported is alive at age 53.

Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by short stature, an unusually small head (microcephaly), certain facial features, respiratory tract infections, mental retardation (intellectual disability), brain malformations, minor skeletal malformations, a higher chance of getting cancer, and other health problems.

If your child is having genetic testing done due to a clinical diagnosis of Nijmegen breakage syndrome, it is most likely that you will find a mutation. The percent of individuals with an identifiable mutation differs depending on ethnicity. For people of Slavic or North American descent, mutations are identified in close to 100% of cases. It is possible that your doctor and genetic counselor may think you have Nijmegen breakage syndrome even if your testing comes back negative. However, your doctor and genetic counselor may recommend testing for other genes that are known to cause symptoms similar to Nijmegen breakage syndrome, if your testing comes back negative.

A "mutation" is when there is a change in the DNA (genetic information) that is known to be harmful and to cause or increase the risk for a particular disease. A "benign variant" is when there is a change in the DNA but it is only a change that makes people different from each other. These changes are not harmful and do not increase the risk for a particular disease. Thus, they are called benign. A "variant of uncertain significance" is a change in the DNA, but it is unknown whether it is a mutation or a benign variant. Therefore it is uncertain whether it could be the cause of disease in your family. Until there is more information, the laboratory will call it uncertain. Once there is more information or more families tested with the same change, the laboratory will determine whether it is harmful or benign.

Even if you didn’t have a referral to EI at birth, you can still get access to EI therapies before the age of 3. If you think your child may be having problems in their development, you can schedule an appointment with a developmental pediatrician for an evaluation. The developmental pediatrician may make a referral to EI therapies at that point.

One of the main health problems for people with Nijmegen breakage syndrome is due to problems with the immune system. These individuals have lower levels of immune system proteins than expected. This causes them to have a higher chance of recurrent infections. These can include bronchitis, pneumonia, sinusitis, and others. Non-Hodgkin lymphoma can present with flu-like symptoms, swollen lymph nodes, belly pain, chest pain, and/or weight loss.

When there is a mutation in the NBN gene it causes Nijmegen breakage syndrome and problems for the body. Specifically, the NBN gene plays a role in helping protect our DNA (our genetic information) from damage. The NBN gene works with other genes to protect our DNA from breaking. When it cannot do its job as well, our DNA breaks more often than we expect it to. This can lead to what is called "chromosomal instability". Our chromosomes are what our DNA is packaged into. When our chromosomes show "instability", it means that they are more likely to break apart when they are damaged. This increased risk of breaking is what causes the features of this syndrome.

Individuals who are carriers of one NBN mutation are at increased risk for certain types of cancers. However, due to these risks being fairly newly discovered the exact risks are not well defined. Further studies are needed in order to know more about the exact risks. If you are found to be a carrier of one NBN mutation, you should speak with your doctor and/or genetic counselor to learn more about your risks. Your management and screening for cancer will be determined by your carrier status and your personal and family history.

A "variant" is another name for change in a gene. We call changes in genes "variants" when we do not know for sure if it is a harmful change (mutation) or if it is not a harmful change (benign). If you have testing done and are found to have a "variant" in the NBN gene, you should speak to your doctor or genetic counselor to learn more about what that means for your continued care.

A "variant" is another name for change in a gene. We call changes in genes "variants" when we do not know for sure if it is a harmful change (mutation) or if it is not a harmful change (benign). If you have testing done and are found to have a "variant" in the NBN gene, you should speak to your doctor or genetic counselor to learn more about what that means for your continued care.

Nijmegen breakage syndrome is a life-threatening illness. Many times when someone in the family is diagnosed with a condition like Nijmegen breakage syndrome, family members can be upset, angry, or confused. Each person responds to this news in their own way. Having to go through doctor’s visits, potentially genetic counseling and genetic testing, plus many more appointments can be very stressful and increase anxiety for the entire family. Your doctor and/or genetic counseling can help you identify resources available in order to meet your family’s specific needs during this time.

NBS is caused by a mutation (change) in a gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutation in NBS is most often called the NBS1 gene. It is also known as the NBN gene. When there is a mutation in the NBN gene, it cannot do its job as well. This causes someone to have NBS.

In the vast majority cases when a child is diagnosed with Nijmegen breakage syndrome it affects the entire family not just the parents and the child with the condition. Some family members experience sadness, anger, withdrawal, and many other emotions. When coping with a genetic condition in the family it is important to encourage the open expression of thoughts and feelings. It is possible that siblings may feel neglected because they think their parents are focusing on the child with the condition. Siblings and extended family are more than welcome to attend various support groups.

The main symptoms of Nijmegen breakage syndrome (NBS) are short stature, microcephaly, certain facial features, respiratory tract infections, mental retardation, and an increased risk for certain cancers. People who have NBS tend to grow slower than people with NBS when they are infants through early childhood. Their growth will then change to a normal rate but they will continue to be shorter than their peers without the disorder. Microcephaly is seen from the time the baby is born. It tends to be progressive meaning that it seems to get worse throughout time. This is because the head does not grow at the same rate as the body and that makes the head look like it gets smaller as the body grows. Facial features that are apparent by age 3 can include a sloping forehead, a prominent nose, large ears, a small jaw, and upslanting palpebral fissures (outside corners of the eyes point upward). These individuals also have mild to moderate mental retardation (now called intellectual disability). These people are also at increased risk for a cancer called non-Hodgkin lymphoma (a blood cancer), certain types of brain cancer, and a muscle cancer called rhabdomyosarcoma. They are about 50 times more likely to get cancer than people without NBS. In addition to these symptoms, girls with NBS can also have premature ovarian failure and have trouble starting their menstrual periods by age 16. Most girls with NBS also are infertile.

If someone has two mutations in the NBN gene, the vast majority will have the features of Nijmegen breakage syndrome. However, not everyone will develop cancer. About 50% of people with Nijmegen breakage syndrome will get non-Hodgkin lymphoma by age 15.

If someone inherits a mutation in one copy of the NBN gene, they will not have the signs or symptoms of Nijmegen breakage syndrome. However, these individuals are at increased risk for various cancer types.

There are many great resources out there for you to read about the psychological and social issues. Here are a few.

There are several options available to you and your family prenatally to diagnosis Nijmegen breakage syndrome (NBS). Keep in mind that these options require a genetic diagnosis of the condition in the family in order to pursue them. That is because the specific genetic mutation must be identified in order to make sure the tests are looking at the correct mutation in the correct gene. Prenatal diagnosis allows the family to know whether the pregnancy is affected with a certain condition or not. It involves testing the fetus during the pregnancy and looking for the mutation already identified in the family. There are two main ways to do this. The first is called chorionic villus sampling and the second is called amniocentesis. Chorionic villus sampling is typically done between 11-13 weeks gestational age. Amniocentesis is typically done after 16 weeks gestational age.

Rare Diseases Europe offers stories from people with all types of rare genetic conditions. You can browse through the stories with pictures of the individuals who wrote them.

When a child with Nijmegen breakage syndrome or any type of genetic condition becomes a teenager, it can be difficult to know how to answer questions or explain the condition so that they understand. It is important to start the "transition" process around age 13 or 14. Many clinics will try to enter this transition phase around that time and will try to help you through the process. The transition phase means that the doctors and/or genetic counselors will try to help transition your child into being more in charge of his/her care. Your pediatrician and your child’s school can help explain the process and figure out a personalized plan for your child so that he/she is the most successful and independent possible.

If you have a doctor’s appointment coming up about Nijmegen breakage syndrome, there are many questions that you can ask. You should write down any questions you would like to ask so that you don’t stress about remembering them. Some ideas for questions are:

If your child underwent testing for Nijmegen breakage syndrome and was found to have a variant of uncertain significance in the NBN gene, it is most likely that the doctor and genetic counselor will want to do more testing. This is done to try and get as much information as possible in order to have a better idea of whether the VUS is a mutation or benign. In order for a child to have Nijmegen breakage syndrome, they must have two mutations in the NBN gene. If one known mutation and one VUS is found, it is fairly suspicious that the VUS is a mutation. However, we cannot say for sure. That is why more testing may be done to follow-up. The next steps are highly dependent on your family history and the results from the genetic testing. The genetic counselor will be able to explain what the next steps are if a VUS is found.

Unfortunately children with Nijmegen breakage syndrome (NBS) can still be at increased risk for various cancers. This will mean that your child’s cancer surveillance will continue to be increased compared to children who do not have NBS.

If you have confirmed that your child has Nijmegen breakage syndrome (NBS), that means you and your partner are carriers of that condition. There is a 25% chance with each pregnancy to have another child with the same condition. If you are interested in learning about whether a future pregnancy is affected with NBS, or if you would like to prevent a future pregnancy to be affected by NBS, there are several options available. These options can be discussed with a prenatal genetic counselor, and ideally should be discussed before becoming pregnant.

It is possible that people with Nijmegen breakage syndrome will have different clinical features from another individual with Nijmegen breakage syndrome (this is called variable expression). The vast majority of individuals with Nijmegen breakage syndrome will show at least one typical symptom of Nijmegen breakage syndrome, making the penetrance of the disease almost 100%. There have been reports of girls with Nijmegen breakage syndrome having no symptoms other than not getting their menstrual period and experiencing infertility.

There is treatment available for some of the symptoms of Nijmegen breakage syndrome (NBS). Unfortunately, there are no treatment options available for short stature, microcephaly, or the characteristic facial features. However, there are options available for several of the other symptoms. For example, early intervention services may be available to help the development of these children. Additionally, various therapies are available for cancer treatment. These therapies are recommended by doctors specializing in cancer treatment.

Nijmegen breakage syndrome is unusual in that it causes physical changes like a small head and poor growth and an increased risk for cancer.

Nijmegen breakage syndrome is not a condition that is tested for on the newborn screen. However, if it is suspected at birth, testing infants is reasonable. Many laboratories offer testing for Nijmegen breakage syndrome. Speak to your doctor or genetic counselor to learn more about your options for genetic testing.

There is currently research going into knowing more about Nijmegen breakage syndrome (NBS). These research studies and clinical trials are all trying to learn more about how to better treat and take care of patients with Nijmegen breakage syndrome. One of the clinical trials going on is looking at a specific drug that is used to treatment immunodeficiency diseases. It is currently going on in the United Kingdom and Austria. There are also many research projects going on throughout the world in order to learn more about the symptoms and characteristics of the disorder. Talk to your doctor to learn more about the research opportunities available.

After both of these procedures your doctor will tell you to take it easy for the rest of the day. There is a small risk of miscarriage with both procedures since they are invasive. This can range from 1 in 300 to 1 in 500 depending on the procedure and the doctor performing the procedure.

Unfortunately, there is no noninvasive options for prenatal testing for Nijmegen breakage syndrome (NBS). For genetic disorders like NBS that are caused by single gene mutations, once you are pregnant, only amniocentesis and CVS are available and recommended for testing.

Nearly 100% of individuals of Slavic descent are homozygous for a common mutation causing Nijmegen breakage syndrome (NBS). This mutation is known as c.657_661del5. About 70% of individuals of North American descent are also homozygous for this mutation. This is the only recurring, common mutation causing Nijmegen breakage syndrome.

Nijmegen breakage syndrome affects both males and females equally. It is an autosomal recessive condition, meaning that males and females are at the same risk to have the condition if both parents are known to be carriers of a mutation in the NBN gene.

It is thought that Nijmegen breakage syndrome is most common in the Slavic populations originating from Eastern Europe.

NBS is caused by a mutation (change) in a gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutation in NBS is most often called the NBN gene. It is also known as the NBS1 gene. When there is a mutation in the NBN gene, it cannot do its job as well. This causes someone to have NBS.

Since symptoms and cancer risks occur early in life, it is reasonable to test children for this condition if it is suspected. If the child has no symptoms, it is highly unlikely that he or she has the condition as it is fairly highly penetrant.

Your doctor should know about the symptoms and characteristics of Nijmegen breakage syndrome. He or she should know about the risk of various types of cancer. Additionally, your doctor should know about the immunodeficiencies that come with this condition and how to manage them. Your doctor can speak with a specialists in primary immunodeficiencies in order to learn more about this disorder and to take the best possible care of you.

Genetic counselors are experts in both genetics as well as the psychosocial implications of having a genetic condition. The genetic counselor will sit down with you and your family and go through your family health history, discuss the diagnosis of Nijmegen breakage syndrome (NBS), and help you work through what the diagnosis means for your family. Genetic counselors can help you talk with other family members about the diagnosis. Genetic counselors can also help you identify support resources available to you, and possibly even connect you with other families who are experiencing the same diagnosis. To find a genetic counselor in your area you can go to NSGC.org and "Find a Genetic Counselor."

The term "heterozygous" in Nijmegen breakage syndrome describes someone who is a carrier of a mutation in one gene, but has another normal copy of the gene. Some who is a carrier of one mutation in the NBN gene would be called a heterozygous carrier. "Homozygous" means the individual has a mutation in both copies of the NBN gene. Homozygous individuals have the same exact mutation in both copies. "Compound heterozygous" means the individual have two mutations, one mutation in each copy of the NBN gene, however, these mutations are not the exact same mutation. Individuals with Nijmegen breakage syndrome must either be compound heterozygous or homozygous for a mutation in the NBN gene.

It is possible that there are many words or other terms you may see instead of "variant of uncertain significance" (VUS). Many laboratories and clinicians used different terms for a VUS. Recently, ACMG has determined that the term will be VUS and should be used that way across all laboratories and healthcare providers. However, many information sites or other research may still be using other terms for a VUS. Some of these include: VOUS- variant OF uncertain significance, variant of unknown significance, and unclassified variant. It is possible that there are more depending on the website or book you are reading. If you have a question about a specific term used in your research, you can always ask your doctor or genetic counselor for help.

If you have a child with Nijmegen breakage syndrome there is a chance that you could have another child with the condition. In an autosomal recessive condition, there is a 25% (1 in 4) chance with each pregnancy for a child to be born with Nijmegen breakage syndrome.

If you previously had a child with Nijmegen breakage syndrome that means you are known as a carrier for that condition. A carrier for Nijmegen breakage syndrome means that they have a mutation in one copy of the gene causing Nijmegen breakage syndrome. Carriers of these types of conditions do not typically show signs or symptoms of that condition. However, they are at risk (25% or 1 in 4) to have another child with the condition. Sometimes these people are also at increased risk for other types of conditions. Carriers of one NBN mutation are at increased risk for certain types of cancer.

People who have had a child with Nijmegen breakage syndrome that can been confirmed by genetic testing are at risk for certain types of cancer. This is because they are carriers of a condition that increases risk for cancer. Women who are carriers of one NBN mutation are at increased risk for breast cancer. Men who are carriers of one NBN mutation are at increased risk for prostate cancer.

We all inherit two copies of each of our genes from our parents. One copy comes from mom and one comes from dad. Nijmegen breakage syndrome is inherited in an autosomal recessive manner. An autosomal recessive conditions means that both copies of the NBN gene have to have a mutation in order to show symptoms of the condition.

EI is offered to babies and toddlers who have a developmental delay or disability whether it is caused by Nijmegen breakage syndrome or not. Each state has their own eligibility criteria. However, each state begins with an evaluation to learn more about the child’s delay or disability, and to learn more about what areas they could use more help in.

Laboratories follow the guidelines recently made by ACMG. These guidelines tell the labs what evidence and information they need in order to classify variants in one of those categories. Updates to these recommendations were just recently made in March 2015, so it is possible that websites or other research may use old guidelines.

In the majority of cases, Nijmegen breakage syndrome (NBS) can be diagnosed by genetic testing. However, geneticists and genetic counselors will likely do a workup and physical exam to make sure there are no other additional complications they should be looking out for. This involves the geneticist (doctor specializing in genetics) doing a physical exam to look for any additional physical features or abnormalities. This is done because there may be additional recommendations or specialists they will refer you to for the best care possible. The genetic counselor will talk about what the geneticist will do during the physical exam, and will talk about the genetic testing available.

Starting a support group is a great idea and a great help to families and individuals experiencing the same issues and symptoms of the condition. If you are interested in starting a support group of your own, a good place to start is by speaking to the support groups and organizations already founded. They likely can provide information about people near you that are interested in creating a support group.

One of the best ways to help continue research in Nijmegen breakage syndrome (NBS) is to donate to various foundations. For example, one of the foundations is called Immune Deficiency Foundation and it accepts donations to continue their work. There are many other foundations focused on helping individuals with primary immunodeficiencies. Links are found below for some of these organizations. You can also donate your time as a volunteer for some of the organizations. [link url="” target=”_blank”>VolunteerMatch.org offers opportunities available for volunteer work with the Immune Deficiency Foundation.

Testing for Nijmegen breakage syndrome can be ordered by your doctor or genetic counselor. There are many laboratories that offer genetic testing for Nijmegen breakage syndrome. It involves either a blood or saliva sample. Results taken about 4-6 weeks depending on the laboratory.

You can find information on specialist in Nijmegen breakage syndrome through the Genetic and Rare Diseases Information Center (GARD). This is a National Institutes of Health run center that offers information on specialists for many rare diseases. They breakdown the providers into genetics clinics, specialty treatment center, or researchers in Nijmegen breakage syndrome.

To find a center of excellence in Nijmegen breakage syndrome, you can go to NORD. NORD is the National Organization for Rare Disorder’s and its website ([link url="” target=”_blank”>RareDiseases.org) provides information on centers of excellence for many rare conditions. Additionally, [link url="” target=”_blank”>Orpha.net lists centres of expertise worldwide to find doctors and specialists who are experts in the condition.

Nijmegen breakage syndrome is an extremely rare genetic condition. The exact number of individuals affected is unknown. However, it is thought to affect about 1 in 100,000 newborns worldwide.

Biopsy is most likely not necessary for Nijmegen breakage syndrome testing. Since a biopsy is more invasive than a saliva or blood sample, it is not recommended for Nijmegen breakage syndrome testing. There are no differences in the accuracy of genetic testing when using either blood or saliva. Many laboratories offer both blood or saliva for Nijmegen breakage syndrome testing. The testing is completed in the exact same way for both blood and saliva.

The majority of features of Nijmegen breakage syndrome (NBS) happen when we are born and there is nothing we can do to prevent them or cause them. However, there is an increased risk of cancer with NBS. Cancer risks can be modified slightly by environmental factors. People with NBS are about 50 times more likely to get cancer than people without NBS. The most common type of cancer in NBS is called non-Hodgkin lymphoma. This is a cancer that starts in the blood. Other types of cancer are brain cancer and a cancer of the muscles called rhabdomyosarcoma.

People with mutations in the NBN gene have the disorder Nijmegen breakage syndrome. Most individuals with this disorder are born with all of the features associated with the disorder including short stature, microcephaly, certain facial features, respiratory tract infections, and mental retardation. The only part of the disorder they are predisposed for is the risk for cancer. This means that there is not a 100% chance they will get cancer. They are 50 times more likely to get cancer than individuals without NBS.

Many support groups for families and patients with Nijmegen breakage syndrome recommend that parents need to give their children information about their diagnosis. This should be in terms that your child can understand. This includes answering questions as directly and truthfully as possible.

Early intervention therapies are available throughout the United States. The therapies are available from ages 0-3 and are free of charge to all babies and children who are found to be developmentally delayed. EI focuses on helping these babies and toddlers continue to learn and develop the skills that we expect to see them developing in the first three years of life. For example, EI therapies available include physical, cognitive, communication, social/emotional, and self-help.

Amniocentesis and chorionic villus sampling are ways to identify whether the pregnancy is affected with Nijmegen breakage syndrome (NBS) before the baby is born. Both involve looking at the genes and try to find the exact mutation that was already found in the family. Chorionic villus sampling (CVS) is typically done before 11-13 weeks gestational age. CVS if performed using the help of ultrasound in order to find where the baby and the placenta are located. It usually can be done either "transabdominally" or "transcervically". Transabdominally means that the doctor will insert a needle into the woman’s abdomen and take a small sample of the chorionic villi. Chorionic villi are a part of the placenta and usually shares the same genetic information as the baby. If it is done transcervically, the doctor will insert a catheter into the cervix and take a sample of the chorionic villi.

Some of the symptoms associated with Nijmegen breakage syndrome (NBS) may be able to be detected on prenatal ultrasound. For example, it is possible that microcephaly, small growth, brain malformations, and minor skeletal anomalies can be found on prenatal ultrasound. However, if your family is at risk to have a pregnancy affected with NBS, diagnostic testing is recommended during pregnancy. This is because ultrasound is a screening technique and therefore is not perfect. Not all individuals with NBS will have the same symptoms, so it is possible none may be detected on prenatal ultrasound.

No, currently the NBN gene is the only gene known to cause NBS.

Treatments for Nijmegen breakage syndrome related cancers are extremely organ and cancer-type specific. Your doctors will look at markers of your cancer in order to help guide the best treatment possible. Early intervention therapies for developmental delay and intellectual disability are designed specifically for each individual.

Nijmegen breakage syndrome is the most common name for the disorder but there are other names also. NBS is also called Ataxia-telangiectasia variant V1 (AT-V1) and Seemanova syndrome II.

There are many testing options available for Nijmegen breakage syndrome at several different laboratories. There are options available to test for the NBN gene only. There are also options to do a panel test of several genes known to cause conditions similar to Nijmegen breakage syndrome.

There are several support groups available for individuals with conditions like NBS. Many are immunodeficiency support groups.

No, most cases of Nijmegen breakage syndrome (NBS) are seen at birth or within 3 years of life. However, the ages of cancer onset can vary between individuals. About 50% (half) of individuals with NBS will get non-Hodgkin lymphoma by the age of 15. However, the exact age at which an individual will get cancer can change.

Many support organizations have resources designed for caregivers. A group resource specific to primary immunodeficiency syndromes like Nijmegen breakage syndrome is through ImmuneDisease.com. This resources provides patient stories, offers a support program, insurance assistance, as well as a program to "ask an advocate". Ask an advocate is where you can submit a question directly to the patient advocates and nurses. They can answer questions about living with and managing primary immunodeficiency syndromes.

It is possible to have 5 different types of results. The first three are positive, negative, and a VUS. These are ones discussed in previous questions. A positive result means that a mutation was found that is known to be harmful and to cause the condition. This means that we have found a reason for the issues your child has been having. A negative means that no mutations were found and that no explanation has been found for why your child has the issues he or she does. A VUS is an inconclusive result, meaning we do not know for sure whether it is a positive or a negative result. In this case, more testing may be recommended and the genetic counselor will discuss exactly what the next steps are in that situation. The last two are called "likely benign variant" and "likely pathogenic variant." A likely benign variant is most likely a benign (not harmful) change but we still do not have enough evidence to say for sure. A likely pathogenic variant is similar to this, but it is most likely a mutation (harmful). However further information is needed in order to say for sure that the variant is positive or negative.

There are several genetic disorders that have health problems that look like Nijmegen breakage syndrome. These disorders share features with NBS and it can be difficult to distinguish between them. Some of these features include Fanconi anemia, ataxia-telangiectasia, biallelic RAD50 gene mutations, ligase IV syndrome caused by LIG4 mutations, as well as inherited immunodeficiency syndromes. The physical features of NBS could also suggest Seckel syndrome and Rubinstein-Taybi syndrome. These syndromes can all have overlapping features. You can discuss the various syndromes with your doctor in order to learn more.