MammoRisk: intelligent tool for 5-year breast cancer risk assessment

In an average-risk woman, the chances of developing breast cancer depends on various risk factors like:

• mammographic breast density

• family history of breast or ovarian cancer

• history of benign breast disease

• endocrine exposures

• lifestyle patterns

A risk assessment clinic was initiated by the researchers for all women who volunteered to undergo an individual breast cancer risk assessment.

They underwent a complete breast cancer assessment including a questionnaire, mammogram which evaluated breast density, collection of saliva samples, radiologist consultation, and a breast cancer specialist. MammoRisk is a machine learning-based tool that provides an individual 5-year estimated risk of developing breast cancer based on the patient's breast density and clinical data, irrespective of the presence of Polygenic risk scores. The saliva samples were used to extract DNA to genotype 76 single-nucleotide polymorphisms. Possible risk, monitoring, screening, and prevention guidelines were communicated to them on an individual basis.

196 out of the 290 women who underwent this assessment were eligible to use MammoRisk for risk assessment. To the same when polygenic risk scores were added, 40% of patients changed to a different risk group and 28% changed from medium to high risk.

The researchers provided conclusive evidence stating that individual risk assessment stands feasible in the general population for breast cancer.