Abstract
We aim to identify a genomic driver leading to overexpression of benign hamartomatous growths seen in the excessive thoracic angiomas of breast cancer patients. In our practice, we have observed that 4% of Caucasian postmenopausal and 1% of premenopausal breast cancer patients demonstrate large numbers of cutaneous angiomas, largely on the anterior trunk. Genetic analysis of “cherry angiomas” have found that they frequently carry specific somatic missense mutations in the GNAQ and GNA11 (Q209H) genes. Tumorigenesis has been correlated with abnormal expression and receptors, and associated G proteins (GNAS, GNAQ, or GNA11). Oncogenic mutations in G protein coupled receptors and guanine protein encoding genes have been identified in a significant number of tumors such as uveal melanoma and other malignancies. If a common genomic driver is identified in these breast cancer patients with excessive thoracic angiomas, there may be targeted treatment available for this genetic tumor subset in the future. To test the hypothesis that a driver for increased number of angiomas may also be a driver for developing breast cancer, ten breast cancer patients with 100 or more thoracic angiomas were consented to have somatic whole exome sequencing of their archival breast cancer tissue through CARIS Life Sciences. At the time of abstract submission, the batch of 10 patients’ tumor samples have been sent to CARIS for sequencing. Once the results are received, we will include further specific information on distribution of angiomas in Caucasian women in pre-and post-menopausal breast cancer patients. Citation Format: Rachel Geiser, Lorinda Baker, Peaches Ulrich, Albert Wendt. Genomic Investigation of Angioma in Mammary Cancer [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P5-04-23.