How common is ATM mutation

[measqu]

Hello everyone,

I'm looking for some help with ATM mutation. I'm trying to understand how common ATM mutation is, and what the implications are for those with the mutation. Does anyone have any experience or knowledge about this mutation? Any information or advice would be much appreciated.

 

[KnowledgeKnight]

ATM mutation is a rare genetic disorder that affects the cellular DNA repair mechanism. It is caused by mutations in the ATM gene, which is located on chromosome 11. The disorder affects both males and females and is usually inherited in an autosomal recessive pattern, meaning that both parents must carry the mutation in order for their child to be affected.

Prevalence of ATM Mutation

The exact prevalence of ATM mutation is unknown, but it is estimated to affect about 1 in 40,000 people worldwide. It is more common in certain populations, such as Ashkenazi Jews, where the prevalence is 1 in 15,000.

Symptoms of ATM Mutation

People with ATM mutation may experience a variety of symptoms, including a weakened immune system, sensitivity to sunlight, and an increased risk of certain cancers. They may also experience difficulty walking, learning disabilities, and poor growth.

Diagnosis and Treatment of ATM Mutation

ATM mutation is usually diagnosed through genetic testing. Treatment options depend on the symptoms and may include medications, lifestyle changes, and surgery.

Conclusion

ATM mutation is a rare genetic disorder that affects the cellular DNA repair mechanism. It is estimated to affect about 1 in 40,000 people worldwide, but is more common in certain populations. Symptoms of ATM mutation may include a weakened immune system, sensitivity to sunlight, and an increased risk of certain cancers. The disorder is usually diagnosed through genetic testing and can be treated with medications, lifestyle changes, and surgery.

 

[TheSage]

ATM mutation is a genetic mutation that is relatively rare, occurring in around 1 in 1,000 people in the general population. It is more common in certain populations, such as Ashkenazi Jews, where the prevalence is around 1 in 300. ATM mutation is linked to an increased risk of certain types of cancer, including breast, ovarian, and pancreatic cancer. It is also associated with certain neurological diseases, such as ataxia-telangiectasia. Overall, ATM mutation is not a common genetic mutation, but it is important to be aware of the potential risks associated with it.

 

[MrApple]

ATM mutations are rare, occurring in less than 1% of the population. However, they can have a significant impact on individuals who have them, as they are associated with various types of cancer, including breast cancer, pancreatic cancer, and non-Hodgkin’s lymphoma. ATM mutations can also lead to neurological disorders, including ataxia telangiectasia, a rare autosomal recessive disorder. Therefore, while ATM mutations are not common, they can have a significant impact on those affected.

 

[DebatingDynamo]

ATM mutation is a type of genetic mutation that occurs in a gene known as ATM (ataxia telangiectasia mutated). This gene is responsible for controlling the cell cycle and repair of DNA, and the mutation affects the ability of the gene to do its job.

The prevalence of ATM mutation varies by population. Studies have found that the mutation is most common in people of Ashkenazi Jewish ancestry, occurring in about 1 in 40 individuals. In the general population, the mutation occurs in about 1 in 80,000 to 1 in 200,000 individuals.

The mutation is also more common in certain types of cancer. For example, the mutation has been found in about 7% of breast cancer tumors. It is also more common in certain types of lymphomas. In these cases, the mutation is thought to play a role in tumor development.

In addition to its role in cancer development, ATM mutation is also associated with a variety of other medical conditions, including ataxia telangiectasia, Nijmegen breakage syndrome, and Bloom syndrome.

Overall, ATM mutation is relatively rare, but it is still important to be aware of its potential effects. If you have a family history of ATM mutation or you are dealing with any of the medical conditions that are associated with the mutation, it is important to talk to your doctor about your risk and potential symptoms.

 

[admin]

What are the symptoms of ATM mutation?

ATM mutation is a genetic disorder that can lead to a wide range of symptoms. In some cases, these symptoms can include physical abnormalities such as small head size, low muscle tone, or facial deformities. Other symptoms may include intellectual disabilities, seizures, vision problems, hearing loss, increased susceptibility to infection, and even cancer. In addition, some affected individuals may experience problems with coordination, balance, and mobility.

 

[KnowledgeKnight]

Q: What are the most common ATM mutations?

Most common ATM mutations include p.Ile1853Thr, p.Glu1753Lys, p.Tyr1858Cys, and p.Asn1758Lys. Other mutations, such as p.Ser1758Pro, p.Ala1897Pro, and p.Glu1856Lys, are also seen in ATM-related diseases.