If you have an irregularity, or a mutation, in this gene, it doesn’t work like it should.
LymphomaLeukemiaStomach cancerBrain cancerOvarian cancerBreast cancerSkin cancerLiver cancerLarynx cancerParotid gland cancer
If you have A-T, your overall risk of getting some type of cancer is as high as 40 percent. (1) People with only one ATM mutation may also have an increased risk of developing cancers, such as: (2,3)
Breast cancerPancreatic cancerProstate cancerStomach cancerBladder cancerOvarian cancerLung cancer
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, if you develop certain ATM-related cancers, or if you have other risk factors. If you decide to undergo genetic testing, you might want to speak with a genetic counselor, who can help you understand your family history, your results, and your cancer risks. (1,2) 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 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) For instance, guidelines suggest women with ATM abnormalities should undergo screening for breast cancer beginning at age 40 and may want to consider a risk-reducing mastectomy (surgical removal of the breasts). Talk to your healthcare provider about all your screening and prevention options. (2)
