Polygenic Risk Score could improve risk prediction in familial breast cancer


A new publication shows that a Polygenic Risk Score could improve risk prediction and influence clinical decision-making in familial breast cancer. Clinical Genomics Uppsala contributed with assay development, laboratory work and bioinformatic analysis.

There has been a large interest in polygenic risk scores (PRS) for many years, however, these scores have been shown to be variously useful for population risk stratification and individual risk assessments. Routine clinical genomic investigation of familial breast cancer currently includes sequencing of hereditary breast cancer genes but not analysis of PRS. A study led by Daniel Eriksson, researcher and physician at Uppsala University Hospital, investigates the value of PRS for risk prediction in familial breast cancer.

Clinical Genomics (CG) Uppsala contributed to development of a targeted gene panel capturing 313 risk variants in addition to the hereditary breast cancer genes that are routinely used in clinical investigations. CG Uppsala also performed laboratory and bioinformatics work to generate and analyze genetic data in the study. 

– From a technical point of view the project was particularly interesting as it involved translating genetic results that originate from one analysis platform (array data) to another (sequencing). Now that we have these tools in place we are prepared when healthcare is ready for a clinical implementation, says Claes Ladenvall, leader of the bioinformatics work package at CG Uppsala and co-author of the publication. 

The results of the study showed that integration of PRS in the clinical genomic investigation of women with familial breast cancer can improve risk prediction and influence clinical decision-making. There is an ongoing dialogue about including PRS in the national care programs for breast cancer. 


Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer Baliakas P, Munters AR, Kämpe A, Tesi B, Bondeson ML, Ladenvall C, Eriksson D. J Med Genet. 2023 Aug 14:jmg-2023-109311. doi: 10.1136/jmg-2023-109311.

Last modified: 2024-02-23