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Mutations in the ATM gene have been shown to confer susceptibility to breast cancer in heterozygous carriers. Unlike BRCA1, BRCA2 and TP53 which have been shown to be associated with high risks of breast cancer1, ATM (and CHEK2) are associated with more modest risks2. It has also been reported that there is an increased risk of pancreatic cancer for both men and women with ATM mutations3
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1. Clinical management of BRCA1 and BRCA2 mutation carriers. Domchek SM, Weber BL. (2006). Oncogene 25: 5825–5831.
2. Models of genetic susceptibility to breast cancerAntoniou A, Easton DF. (2006). Oncogene 25: 5898–5905.
3. Roberts NJ, et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2012 2:41-6.
4. Clinical and Laboratory Standards Institute (CLSI). Protection of Laboratory workers from occupationally Acquired Infections; Approved Guideline-Fourth Edition CLSI document M29-A4 Wayne, PA 2014.