Female ATM carriers have approximately a 2-fold risk, on average, for developing breast cancer, which was confirmed through two large studies that reported risks (odds ratio) as 2.10 (95% CI, 1.71–2.57)1 and 1.82 (95% CI, 1.46–2.27). Both studies reported an association with ER+ tumors. Another recent study estimated breast cancer risks to be 13% by age 80, but suggested that these risks may vary based on the specific mutation type and location. A similar breast cancer risk (odds ratio) of 2.03 (95% CI, 1.89–2.19) was estimated through a commercial lab-based study of 4607
ATM carriers. This study reported higher breast cancer risks in female carriers with the c.7271T>G missense variant (OR, 3.76; 95% CI, 2.76–5.12) compared to other missense and truncating ATM mutations. Risk (odds ratio) reported for ovarian cancer in this study was 1.57 (95% CI, 1.35– 1.83) and for pancreatic cancer was 4.21 (95% CI, 3.24–5.47). Estimates of cumulative risk for pancreatic cancer risk through another study of 130 pancreatic cancer kindreds with a pathogenic germline ATM variant were reported to be 1.1% (95% CI, 0.8%–1.3%) by age 50; 6.3% (95% CI, 3.9%–
8.7%) by age 70; and 9.5% (95% CI, 5.0%–14.0%) by age 80.5 Overall, the relative risk of pancreatic cancer was 6.5 (95% CI, 4.5–9.5) in ATM carriers compared with noncarriers, and the average age at diagnosis was 64
(range 31-98). Finally, risks for the association of ATM mutations with prostate cancer have been mixed, with the recent commercial lab-based study reporting a risk (odds ratio) of 2.58 (95% CI, 1.93–3.44).
1 Breast Cancer Association Consortium et al. N Engl J Med. 2021; 384(5):428-439. PMID: 33471991;
2Hu et al. N Engl J Med.2021;384(5):440-451. PMID: 33471974;
3Renault et al. Breast Cancer Res. 2022;24(1):24. PMID: 35365198. Social media post September 19th , 2022. Available at: https://tinyurl.com/post9192022;
4Hall et al. Cancer Prev Res (Phila). 2021;14(4):433-440. PMID: 33509806. Social media post June 21st, 2022. Available at: https://tinyurl.com/post6212022;
5Hsu et al. JAMA Oncol. 2021;
7(11):1664-1668. PMID: 34529012. Social media post October 1st, 2021. Available at: https://tinyurl.com/post10012021