Breast Cancer Risk Score for Women
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Genetic Risk Scores Predict Invasive breast Cancer Advancement after Abnormal Cell detection
Researchers at King’s College London have established a link between an individual’s genetic risk score and their likelihood of developing invasive breast cancer following the detection of abnormal cells in breast tissue. This marks the first demonstration of this connection, offering potential for more personalized risk assessment and treatment strategies.
The study, published in Cancer Epidemiology, Biomarkers & Prevention on November 21, 2023, and funded by Breast Cancer now, analyzed data from over 2,000 women in the United Kingdom. Researchers examined 313 genetic changes to calculate a genetic risk score for each participant (“Genetic Risk Score Predicts Upgrade to Invasive Breast Cancer After Diagnosis of Ductal Carcinoma In Situ or Lobular Carcinoma In Situ,” Cancer Epidemiology,Biomarkers & Prevention,November 21,2023).
Understanding DCIS and LCIS
The women included in the study had previously been diagnosed with either ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS).DCIS and LCIS represent the most frequently identified types of abnormal cells found within breast tissue.While not instantly life-threatening, these conditions can perhaps progress to invasive cancer.
DCIS is characterized by abnormal cells confined to the milk ducts, while LCIS involves abnormal cells in the lobules (milk-producing glands). The National Breast Cancer Foundation estimates that DCIS accounts for approximately 20% of all breast cancer diagnoses (“Ductal Carcinoma In Situ (DCIS),” National Breast Cancer Foundation). LCIS is less common,representing a smaller percentage of diagnoses.
What is a Genetic Risk Score?
A genetic risk score (GRS) is a calculation that estimates an individual’s inherited predisposition to developing a disease or trait. It achieves this by aggregating the effects of numerous common genetic variants. Each variant contributes a small effect, but collectively, they can provide a significant prediction of risk.
GRS are increasingly used in cancer risk assessment, allowing for a more nuanced understanding of individual susceptibility beyond family history alone. The Polygenic Risk Score (PRS) is a similar concept, often used interchangeably with GRS, and is calculated using genome-wide association study (GWAS) data.
The Challenge of Managing Abnormal Breast Cells
The NHS Breast Screening Program offers mammography screening every three years to women aged 50 to 71, leading to earlier detection of breast cancers (“Breast cancer screening,” NHS). However, this screening process also identifies a ample number of women with non-invasive abnormal cells – DCIS and LCIS.
Currently, it’s challenging to determine which women with DCIS or LCIS will ultimately develop invasive cancer. as a result, they are often offered a range of treatments, from increased surveillance to surgery or radiation therapy. This presents a challenge, as overtreatment can expose patients to unnecessary risks and side effects.
Study Findings and Implications
The King’s college London study demonstrated that women with higher genetic risk scores were more likely to progress from DCIS or LCIS to invasive breast cancer. This suggests that GRS could be a valuable tool for identifying women who would benefit most from more aggressive treatment or closer monitoring.