Abstract P6-08-26: Clinical characteristics of breast cancer patients with ATM mutations

Background: Pathogenic ATM gene mutations are associated with increased risk of developing several cancers such as lymphoid, gastric, breast, central nervous system, skin, and other cancers. The relative risk of breast cancer is 2.3, with a higher risk seen for women under the age of 50 years. Only few and small studies have reported on the characteristics of breast cancers in women with ATM mutations. Here, we aimed to describe the clinical and pathological characteristics of a single institution largest cohort, to the best of our knowledge, of breast cancer patients with ATM mutations. Methods: Patients with breast cancer who presented to the University of Texas MD Anderson Cancer Center Clinical Cancer Genetics clinics and underwent genetic testing for hereditary breast cancer and were found to have an ATM mutation were included. A retrospective review of a prospectively maintained research database was performed for ATM mutation status as well as patient clinical and pathological characteristics. IRB approval was granted for this analysis. Results: Between 2012 and 2019, a total of 4093 breast cancer patients underwent genetic testing for hereditary breast cancer that included ATM gene testing. The median age of diagnosis of breast cancer was 49.3 (17-89), and median age at genetic testing was 52.1 (18-86). 72% of patients had stage 0-III and 3.2% stage 4 disease. Among patients with ATM pathogenic mutations, 37.7% (10) versus 21.7% (843) of ATM negative patients had a history of multiple primaries of any cancers. The table below shows characteristics of ATM pathogenic mutation carriers versus ATM negative patients. Conclusion: This is a single institution cohort of breast cancer patients with ATM mutations that show distinct clinical characteristics, such as multiple primary cancers. These findings could have therapeutic implications and should be confirmed in larger cohorts. Citation Format: Loredana Militello, Angelica M Gutierrez Barrera, Constance Albarracin, Isabelle Bedrosian, Banu K Arun. Clinical characteristics of breast cancer patients with ATM mutations [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-26.