Study shows polygenic risk score (PGS) could predict breast cancer survival outcomes

June 10, 2024
Study analyzed data from 3,995 patients – most followed for more than a decade.

Data from a large prospective cohort study reveal that a polygenic risk score has the potential to predict survival outcomes in patients with breast cancer. 

Arya Mariam Roy, MBBS, Hematology/Oncology Fellow (Class of 2024) at Roswell Park Comprehensive Cancer Center, shared the results of that study as the first and presenting author of “Breast cancer polygenic risk score and patient survival outcomes in the Pathways study” at the American Society of Clinical Oncology (ASCO) Annual Meeting in Chicago, May 31-June 4. 

Conducted at Kaiser Permanente Northern California between 2006-2013, the Pathways Study provided genome-wide genotype data from 3,995 patients who enrolled shortly after a diagnosis of invasive breast cancer. It is led by Principal Investigators Christine Ambrosone, PhD, Distinguished Professor of Oncology, Senior Vice President for Population Sciences and Chair of Cancer Prevention and Control at Roswell Park, and Lawrence Kushi, ScD, Research Scientist and Director of Scientific Policy at the Kaiser Permanente Northern California Division of Research.

The Roswell Park study drew on the resulting data to compile four polygenic scores for each patient: PGS313 and PGS4k, PGS5k and PGS6m. Investigators then followed the participants to document their survival outcomes. By the end of the 2021 calendar year, the patients had been followed for a median of 10.5 years (0.2-14.2 years). 

Investigators recorded the association between low (T1), medium (T2) and high (T3) polygenic scores within each self-reported racial and ethnic group to seven documented survival outcomes: overall survival, breast cancer-specific survival, recurrence-free survival, second primary cancer-free survival, disease-free survival, invasive disease-free survival and breast cancer event-free survival.

Of the four PGSs measured, only PGS313 was associated with the survival outcomes. Patients with medium (T2) and high (T3) PGS313 had a greater risk of recurrence, death from any cause, total breast cancer events and invasive disease compared with those who had low (T1) PGS313. Higher PGS313 was not associated with contralateral second primary breast cancer, breast cancer-specific death or any other second primary cancer.

Roswell Park Comprehensive Cancer Center release on Newswise