ABSTRACT

It is known that ATM heterozygosity is associated with increased risk of cancer, especially for breast cancer. This report reveals the characteristics of the patients with solid tumors other than breast cancer, associated with Germ-line ATM heterozygosity.

Patients with germline ATM heterozygous mutation, admitted to the Department of Medical Genetics between January 2020 to 2023 were evaluated retrospectively. Patients with a diagnosis of solid tumors other than breast cancer, being followed up for at least 6 months were included in the study. Data of the patients were examinated using the SPSS software version 23.

Median aged at cancer diagnosis of 36 patients were 52.5 (23-65) years. The median follow-up period was 29.5 (11-283) months. Colorectal cancer was the most common diagnosis (30.6%). At follow-up, second primary solid malignancy was diagnosed in 27.8% (10 patients) of the patients. The median time for development of second primary malignancy were 9 (3-156) months. Most common diagnosis of these 10 patients were breast cancer (80%-8 patients).

Development of various solid tumors other than breast cancer related to Germ-line ATM heterozygosity highlights the importance of ATM linked to cancer susceptibility.