New Genetic Score May Forecast Breast Cancer Risk

A new study published in Cancer Epidemiology, Biomarkers & Prevention, a journal of the American Association for Cancer Research, reveals that a 313-SNP breast cancer polygenic risk score (PRS313) may help predict future breast cancer in women diagnosed with ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS) (1^✔ ✔Trusted Source
Breast Cancer Polygenic Risk Score Associated with Outcomes after In Situ Breast Disease

Go to source). In a retrospective study conducted using UK datasets, researchers analyzed 2,169 women diagnosed with ductal carcinoma in situ (DCIS) and 185 women with lobular carcinoma in situ (LCIS) over a median follow-up of 11 years. They found that DCIS patients in the highest PRS313 quartile were 2.03 times more likely to develop contralateral breast cancer (invasive breast cancer in the opposite breast) compared with those in the lowest quartile. For LCIS, an increase in PRS313 was associated with a 2.16 times higher risk of developing ipsilateral breast cancer (same side). Importantly, women with a family history of breast cancer faced more than threefold higher risk of future ipsilateral disease, which increased to fourfold if certain treatments were excluded.

Understanding the PRS313 Genetic Test

PRS313 is a genetic test that estimates breast cancer risk by analyzing 313 gene variants, known as single nucleotide polymorphisms or SNPs. Each variant may slightly increase a woman’s risk, and the test combines all these to provide a personalized risk estimate. Originally validated for women with no previous cancer, researchers wanted to explore whether PRS313 could predict future breast cancer in those already diagnosed with DCIS or LCIS.

How PRS313 Can Personalize Breast Cancer Treatment

For women with DCIS, the study showed that a higher PRS313 score is linked to a greater chance of developing cancer in the opposite breast, but it does not significantly predict recurrence in the same breast. This suggests that women at higher genetic risk could benefit from closer monitoring of the contralateral breast.

In the case of LCIS, higher PRS313 scores were associated with increased risk of future cancer in the same breast. Because LCIS is often considered lower risk, it may not always be surgically removed or treated with hormone therapies. The study suggests that women with a high genetic risk and a family history of breast cancer may benefit from additional preventive strategies.

Family History And Personalized Risk Assessment

The study highlights that family history plays a critical role in risk assessment. Women with LCIS and a family history of breast cancer showed a three- to fourfold increase in ipsilateral breast cancer risk depending on prior treatments. By combining PRS313 results with family history, clinicians may provide a more accurate and individualized risk estimate, helping women make informed choices about treatment and surveillance.

Implications For Breast Cancer Surveillance And Prevention

This research opens the door to personalized breast cancer care. Women with DCIS or LCIS can receive guidance tailored to their genetic profile, rather than relying solely on how cells appear under a microscope. High-risk individuals could benefit from enhanced surveillance, preventive surgery, or hormone therapy, potentially reducing the likelihood of future cancer.

The findings also suggest more efficient use of healthcare resources, as interventions could be focused on women who stand to benefit the most. For those at lower risk, unnecessary procedures could be avoided, sparing them from overtreatment and anxiety.

The Future of Genetic Screening in Breast Cancer

While these results are promising, the authors emphasize the need for larger studies to confirm the findings and to explore additional genetic factors that might influence risk. Researchers also note that PRS313 is designed for invasive breast cancer risk, meaning there could be undiscovered genetic variants relevant to in situ lesions. Nevertheless, the study represents a significant step forward in using genetics to guide early breast cancer care.

Early Breast Changes

This study shows how genetic testing could help women who have early breast changes, such as DCIS or LCIS, understand their future cancer risk more clearly. The PRS313 test combines genetic and family history information to identify who might benefit from closer monitoring or preventive care. This approach allows doctors to personalize follow-up and treatment, helping women make more confident, informed choices about their breast health.

Take a proactive step today by discussing your genetic risk with your healthcare provider. Being aware of your personal risk can empower you to make informed choices and safeguard your health.

Reference:

1. Breast Cancer Polygenic Risk Score Associated with Outcomes after In Situ Breast Disease - (https://aacrjournals.org/cebp/article/doi/10.1158/1055-9965.EPI-25-0529/765991)

Source-Medindia