Because of the high risk for a second breast cancer diagnosis, women who are diagnosed with breast cancer who test positive for an inherited mutation in ATM may choose bilateral mastectomy rather than lumpectomy and radiation. Mutation carriers who undergo mastectomy are less likely to develop a second breast cancer.
Full Answer
What happens if you test positive for the ATM gene mutation?
If you test positive for an ATM gene mutation, your doctor will probably recommend that you get screened for cancer at an earlier age and more often than someone without the mutation.
How to analyze the atmgene?
The ATMgene was analyzed by denaturing high performance liquid chromatography and multiplex ligation probe amplification in a series of patients at diagnosis. The results were correlated with immunoglobulin gene mutations, cytogenetic abnormalities, ZAP-70 and CD38 expression, TP53mutations, gene expression profile and treatment-free interval.
Are there any clinical trials for people with an ATM mutation?
People with an ATM mutation who have been diagnosed with cancer may qualify for specific treatments or clinical trials. Visit our Cancer Treatment section for more information about treatment clinical trials for people with an ATM mutation.
How does the ATM gene affect cancer risk?
Your ATM gene normally helps prevent cancers. A mutation in this gene makes it stop working like it should. This increases your risk for certain types of cancers. What is my cancer risk if I have an ATM mutation? An ATM mutation increases your risk for breast cancer. It can also increase your risk for pancreatic cancer, but this is less common.
How is ATM gene mutation treated?
According to experts, cancer patients with a single ATM mutation can undergo radiation therapy to treat their cancer as recommended by their oncologist.
What happens if genetic testing is positive?
A positive result means that testing has identified a gene change or genetic mutation in one or more of the genes analyzed. This type of result may be called a pathogenic or disease-causing variant. A positive result typically means that you're at higher risk of developing a hereditary condition.
How serious is ATM gene mutation?
An ATM mutation increases your risk for breast cancer. It can also increase your risk for pancreatic cancer, but this is less common. An ATM mutation may also increase your risk for ovarian and prostate cancer, but more research is needed for us to better understand these risks.
What does it mean if I have the ATM gene?
Those with an ATM gene mutation are thought to be at increased risk for early-onset breast cancer and bilateral breast cancer. However, the exact breast cancer risk, and whether or not there is any other cancer risk, conferred by a carrying a mutation in the ATM has not been determined.
What does gene positive mean?
A positive genetic test result means that an inherited mutation was found in a gene (or sometimes in more than one gene) that is associated with increased cancer risk.
What decisions would you make if you tested positive for BRCA1 or BRCA2?
A positive test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn't have the mutation. But a positive result doesn't mean you're certain to develop cancer.
What percentage of people have the ATM gene mutation?
The study found that around 0.35% of people carry an ATM mutation—still a significant number, but lower than the 1% to 2% of the population previously thought. Previous research has suggested that the variant may also be linked to pancreatic cancer.
How long can you live with ataxia telangiectasia?
Ataxia telangiectasia is a rare, multiorgan neurodegenerative disorder with enhanced vulnerability to cancer and infection. Median survival in two large cohorts of patients with this disease, one prospective and one retrospective, is 25 and 19 years, with a wide range.
What is ATM positive?
Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the ATM gene. Both of these results should be considered positive. Gene.
Is there a cure for ataxia telangiectasia?
General Treatment of Ataxia-Telangiectasia. There is no cure for any of the problems associated with A-T. Treatment is supportive but should be proactive.
Is ATM a tumor suppressor gene?
Thus, thanks to its central role in coordinating DNA damage repair, cell cycle arrest, cell cycle checkpoint, and apoptosis, ATM is frequently considered a major tumor suppressor whose mutations often lead to significant increase in risk of cancer.
Should I get tested for ATM gene?
Your healthcare provider might recommend testing if you have a family history of A-T or an ATM mutation, if you have symptoms of A-T, if you develop certain ATM-related cancers, or if you have other risk factors.
What are the risks of ATM mutation?
1. ATM mutation. Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the ATM gene. 2. Cancer risks . You have an increased chance to develop female breast cancer, pancreatic cancer, and possibly other types of cancer. 3. What you can do.
How many copies of the ATM gene are there?
Everyone has two copies of the ATM gene, which we randomly inherit from each of our parents. Mutations in one copy of the ATM gene can increase the chance for you to develop certain types of cancer in your lifetime. Cancer Risks. increased.
What are the options for early detection and prevention for women?
Options for early detection and prevention for women may include: breast exam, mammogram, breast MRI, and options for preventive surgery. Talk to your doctor about what options may be right for you. Options for screening and early detection may include pancreatic or other types of cancer screening.
What is a pathogenic mutation?
Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake ) or a variant that is likely pathogenic in the ATM gene. Both of these results should be considered positive.
What is the chance of inheriting ATM mutation?
50/50 chance. Your close relatives (like your parents, brothers, sisters, children) have a 50/50 random chance of inheriting the ATM mutation that you carry, and other family members (like your aunts, uncles, cousins) may also inherit it. Your relatives can be tested for this same mutation.
Can you have a child with ATM mutation?
Other Medical Concerns. may be present. Individuals with ATM mutations may have an increased risk (25%) to have a child with ataxia telangiectasia, but only if their partner also carries a mutation in the ATM gene.
Can you pass ATM mutations to your sons?
There is a 50/50 random chance to pass on an ATM mutation to your sons and daughters. The image to the right shows that both men and women can carry and pass on these mutations.
What does the ATM gene do?
They are not related to you through marriage or adoption. Your ATM gene normally helps prevent cancers. A mutation in this gene causes it to stop working like it should. This increases your risk for certain types of cancers.
When was the ATM gene last updated?
For more resources, visit www.mskcc.org/pe to search our virtual library. About Mutations in the ATM Gene - Last updated on July 14, 2021. All rights owned and reserved by Memorial Sloan Kettering Cancer Center.
What does ATM mutation mean?
While an ATM mutation means you have a somewhat higher risk of developing cancer than the average person , it may not fully explain why your blood relatives has cancer. As we learn more about these mutations, we may learn they increase the risk for other types of cancers.
What are some examples of cancer screening?
Some examples of these cancer screenings include having breast magnetic resonance imaging (MRI) scans and mammograms (x-rays of your breast). Your genetic counselor will also talk with you about whether there are any other screening or prevention options that may be right for you. Back to top.
How to contact a genetic counselor?
You can reach them Monday through Friday from 9:00 am to 5:00 pm at 646-888-4050.
What happens if you have a mutation?
If you have a mutation, your biological parents, siblings, and children each have a 50% chance of having the same mutation. This means there’s an equal chance they will or won’t have the mutation. Your distant family members may also be at risk for having the same mutation.
Can you have children with an ATM mutation?
If you have an ATM mutation and plan to have children, there are options to prevent your children from inheriting the mutation. You may want to consider discussing these options especially if both you and your partner have an ATM mutation. If you both have a mutation in the ATM gene, which is rare, there’s a chance your child could be born ...
What is the risk of breast cancer if you have a mutation in the ATM gene?
Studies show women who carry a mutation in the ATM gene have a 20 to 60 percent increased risk for breast cancer. ( 5) A-T is a recessive genetic disorder, which means you need to inherit the same abnormal gene for the same trait from each carrier parent. If you and your partner both carry the mutation, you have a 25 percent chance ...
What cancers are associated with A-T?
Stomach cancer. Brain cancer. Ovarian cancer. Breast cancer. Skin cancer. Liver cancer. Larynx cancer. Parotid gland cancer. If you have A-T, your overall cancer risk is 37 times higher than that of the general population.
What is the chance of having a child with A-T?
If you and your partner both carry the mutation, you have a 25 percent chance of your child having A-T with each pregnancy . ( 6) The risk of having a child who becomes a carrier like his or her parents is 50 percent with each pregnancy. (6)
Can you be tested for ATM mutation?
Can You Be Tested for ATM? Yes, genetic testing can help you find out if you have an ATM mutation. Usually, your doctor will ask you to provide a blood sample to be analyzed in the lab. Your healthcare provider might recommend testing if you have a family history of A-T or an ATM mutation, if you have symptoms of A-T, ...
What is the ATM gene?
The ATM gene is typically associated with an autosomal recessive condition called ataxia-telangiectasia (AT). AT is characterized lack of muscle coordination (cerebellar ataxia ) at an early age, dilated blood vessels (telangiectases ) in the whites of the eyes, immune defects, and a predisposition to certain cancers, ...
What is the risk of breast cancer if you have an ATM mutation?
It has been suggested that women who carry a mutation in the ATM gene have an estimated 20-60% increased risk for breast cancer (Renwick et al Nature Genetics. 2006; 38 (8):873-875). Those with an ATM gene mutation are thought to be at increased risk for early-onset breast cancer and bilateral breast cancer. However, the exact breast cancer risk, and whether or not there is any other cancer risk, conferred by a carrying a mutation in the ATM has not been determined. Some studies have also suggested a possible increased risk of sensitivity to radiation (Broeks et al Breast Cancer Res Treat. 2008; 107:243–248). Research in this area is ongoing and our understanding of the implications of carrying a single ATM mutation may change in the future. It is important for patients to keep in contact with their doctors and genetics providers for updates in this area.
What are ATM mutations?
General information for people with inherited. ATM. mutations. Both men and women can carry a mutation in the ATM gene. People with an inherited mutation in ATM have increased risk for certain cancers. See our Cancer Risk section for more information.
Where is the ATM gene located?
The ATM gene is located on chromosome 11. ATM helps to control cell growth and repair damaged DNA. If you are a person with an ATM mutation, you can find peer support through the following resources: FORCE blog: Read stories submitted by people with ATM mutations. Video: FORCE members from the ATM community.
How many genes are tested for breast cancer?
More women are receiving genetic testing when they’re diagnosed with early stage breast cancer, with increasingly more sophisticated tests that include a panel of at least 30 different genes, each carrying different risks for future cancers.
Which mutations carry the highest risk for additional cancers?
Then they compared actual treatments for women who tested positive for BRCA1 or BRCA2 mutations, which carry the highest risk for additional cancers, those who tested positive for other genes associated with breast cancer, and those whose tests were negative or identified a variant not known to increase breast cancer risk.
How many BRCA positive patients get chemotherapy?
Chemotherapy: 38% of BRCA positive patients who were candidates to forgo chemotherapy got it, compared to 30% of patients with a negative genetic test. The observed relationship of surgical treatment to genetic test results are in line with guidelines supporting double mastectomy as an effective strategy to prevent future cancer risk.