ATM gene

3Associated Syndrome Name: ATM-associated Cancer Risk

Female Breast-High Risk

Pancreatic-Elevated Risk

Women with ATM mutations have a risk for breast cancer that is significantly increased over the 12.5% lifetime risk for women in the general population of the United States.

The increase in risk may be especially significant at young ages.

ATM gene product is the serine/threonine kinase that plays essential rolls in DNA double strand brake repair, cell cycle control, and apoptosis.

Such mutations have been found in families with 2 or more cases of pancreatic cancer in close relatives.

The exact increased risk of pancreas cancer is unknown.

Insufficient evidence exists to show an overall increase in prostate cancer risk for men with mutations in ATM.

Some evidence exists suggesting prostate cancers that do develop are more likely to be aggressive.

The risk of breast cancer among ATM pathogenic variant carriers is moderately elevated.

The lifetime risk of pancreatic cancer in carriers is suspected.

ATM alterations are a biomarker of poor prognosis in advanced and/or relapsed urothelial cancer.

Any have a small increase in risk of ovarian cancer.

When an individual may inherit mutations in both copies of the ATM gene, leading to the condition Ataxia-Telangiectasia.

Most individuals with A-T will have symptoms in childhood, including neuronal degeneration, radiosensitivity and immunological


There is also a high risk of cancer, primarily leukemias and lymphomas.

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