Polygenic Risk Score Shows Promise in Predicting Future Breast Cancer in Early-Stage Patients
A new study reveals that a 313-gene polygenic risk score can predict the future risk of breast cancer in women with early-stage diagnoses, offering a promising tool for personalized treatment planning.
Recent research indicates that a blood test utilizing a polygenic risk score (PRS) based on 313 genetic markers (SNPs) can help forecast the likelihood of developing breast cancer in women diagnosed with early-stage conditions such as ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS). Published in ancer Epidemiology, Biomarker & Prevention , this study analyzed data from over 2,300 women, including 2,169 with DCIS and 185 with LCIS.
The study found notable associations between PRS scores and breast cancer risk. Women with DCIS in the highest risk quartile were more than twice as likely (2.03 times) to develop cancer in the opposite breast (contralateral) compared to those in the lowest quartile. However, this score did not significantly correlate with new cancer in the same breast (ipsilateral). Conversely, among LCIS patients, higher PRS scores were linked with a greater risk of cancer in the same breast, increasing the risk by over two times.
Family history further influenced these risks, with women having a familial background of breast cancer experiencing more than a threefold increase in ipsilateral cancer risk when their PRS was high. Excluding those who underwent mastectomy and radiotherapy amplified this risk to four times.
The findings suggest that PRS can be a valuable tool in personalizing treatment plans. By integrating genetic risk scores with traditional diagnostic information, clinicians could better identify women at heightened risk who might benefit from additional preventive therapies, potentially reducing unnecessary treatments.
While promising, the researchers acknowledge limitations, such as the specific design of PRS for invasive disease rather than in-situ conditions and the relatively small cohort of LCIS cases. Further research is essential to validate these results across diverse populations and to assess additional genetic factors.
Overall, the study advances the potential of genomic tools in enhancing breast cancer risk assessment and guiding more tailored therapeutic decisions, ultimately aiming to improve patient outcomes.
source: https://medicalxpress.com/news/2025-09-polygenic-score-future-breast-cancer.html
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