VIDEO: Polygenic risk score may predict short-term risk following negative mammogram
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In this video, Anne Marie McCarthy, PhD, ScM, assistant professor of epidemiology at University of Pennsylvania’s Perelman School of Medicine, discusses findings from her research on polygenic risk score.
The results were presented at San Antonio Breast Cancer Symposium 2021.
“We’re hearing a lot about polygenic risk scores and how they might be useful to access risk of breast cancer for individual patients, and the question is, how do we use this information?” she said. “One application that we’re really interested in is whether polygenic risk scores might help with the decision around when women should begin mammography screening — how often they should receive mammography screening.”
McCarthy said most research on polygenic risk scores examines long-term risk for breast cancer, rather than short-term risk.
“We specifically looked at the patients who had a negative mammogram, and we looked at patients who were diagnosed with breast cancer within two years of the negative mammogram.We wanted to see how well the polygenic risk score predicted risk among that subset of women,” she said.
McCarthy and colleagues determined that polygenic risk score predicted short-term risk for breast cancer and risk for developing “poor-prognosis” breast cancer, including triple negative breast cancer with tumors greater than one centimeter, HER2-positive cancer with tumors greater than one centimeter, and ER/PR-positive HER2-negative disease with tumors greater than two centimeters.
She added that researchers also categorized tumors and determined that polygenic risk score predicted poor-prognosis tumors.
“This information is really useful for clinicians because it provides evidence that the polygenic risk score might identify patients who are risk of developing breast cancer within a short term of a negative mammogram,” said McCarthy, “and those might be patients who might consider screening every year as opposed to every two years or screening with more sensitive technology such as breast MRI.”
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McCarthy AM, et al. P3-13-01. Presented at: San Antonio Breast Cancer Symposium; Dec. 7-10, 2021; San Antonio.
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