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Polygenic risk score may help predict breast cancer survival outcomes

Study led by Roswell Park Cancer Center and Kaiser Permanente will be presented at ASCO annual meeting

Research using data from the Kaiser Permanente Pathways Study that will be presented at the American Society of Clinical Oncology (ASCO) annual meeting shows that a polygenic risk score has the potential to predict survival outcomes in patients with breast cancer.

Genome-wide association studies scan a person’s DNA to identify variants, or mutations, known to be associated with specific diseases. The results can be translated into a polygenic risk score (known as PGS) that can be used to help estimate a person’s risk of developing that disease.

Larry Kushi wearing glasses and a blue button down shirt
Lawrence Kushi, ScD

“We have previously demonstrated that other polygenic risk scores predict fracture risk, and are associated with cardiovascular disease risk factors,” said co-senior author Lawrence Kushi, ScD, a research scientist at the Kaiser Permanente Division of Research. “These analyses demonstrate that at least one breast cancer-related polygenic risk score is associated with outcomes after breast cancer. With further validation, these may ultimately have clinical application in the management of people with breast cancer.”

The study used genome-wide genotype data collected from 3,995 women enrolled in the Pathways Study, one of the largest U.S. studies to follow women from the time of their breast cancer diagnosis. The research team compiled 4 polygenic scores for each patient —  PGS313, PGS4k, PGS5k, and PGS6m —  and then assessed whether low, medium, or high scores were tied to patient outcomes after a median of 10.5 years.

The study found patients with medium and high PGS313 scores had a greater risk of recurrence, death from any cause, total breast cancer events, and invasive disease compared with those who had a low PGS313 score. Higher PGS313  was not associated with second primary breast cancer in the opposite breast, breast cancer-specific death, or any other second primary cancer. No significant associations were seen for PGS4k, PGS5k, and PGS6m.

Arya Mariam Roy wearing a gray jacket over a red shirt.
Arya Mariam Roy, MBBS

The study will be presented on June 1 at the 2024 ASCO meeting in Chicago by Arya Mariam Roy, MBBS, a hematology/oncology fellow at the Roswell Park Comprehensive Cancer Center in Buffalo, New York, who received a 2024 ASCO Merit Award for this abstract.

“Our analysis showed that women with a higher PGS that was predictive of a higher risk of breast cancer also have an increased likelihood of experiencing a second breast-related event, such as cancer recurrence and death,” said co-senior author Song Yao, MD, PhD,  an oncology professor and vice chair of the Department of Cancer Prevention & Control at Roswell Park.

Additional co-authors include Janise M. Roh, MPH, Marilyn L. Kwan, PhD, Cecile Laurent, and Isaac Ergas, PhD, MPH, MFA, of the Division of Research; Christine Ambrosone, PhD, Haiyang Sheng, PhD, Jennifer Delmerico, and Qianqian Zhu, PhD, of Roswell Park; and Nur Zeinomar, PhD, MPH, of the Rutgers Cancer Institute.

Additional information is available from Roswell Park Cancer Center.

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About the Kaiser Permanente Division of Research

The Kaiser Permanente Division of Research conducts, publishes and disseminates epidemiologic and health services research to improve the health and medical care of Kaiser Permanente members and society at large. It seeks to understand the determinants of illness and well-being, and to improve the quality and cost-effectiveness of health care. Currently, DOR’s 600-plus staff is working on more than 450 epidemiological and health services research projects. For more information, visit or follow us @KPDOR.


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