A patient's diagnosis is ataxia-telangiectasia. The physician wants to know if the patient has a mutation associated with increased risk for developing cancer. Which of the following genes should be examined for mutations in this patient?

Question

Quizplus · Accepted Answer

Ataxia-telangiectasia is caused by mutations in the ATM gene, which is associated with an increased risk for developing cancer, particularly breast and lymphoid cancers. Therefore, examining the ATM gene for mutations in this patient would be the best choice to determine their cancer risk. The other genes listed (BRCA1, TP53, and EWS) are also associated with cancer risk, but they are not specifically linked to ataxia-telangiectasia.

A Patient's Diagnosis Is Ataxia-Telangiectasia