SNPs likely to improve breast cancer risk prediction
Incorporating polygenic risk scores based on 18 SNPs (single nucleotide polymorphisms) into risk stratification for breast cancer will improve screening results, says an expert.
Sharing about his experience leading the PROCAS (Predicting the Risk Of Cancer At Screening) programme in the UK, consultant in genetic medicine Professor Gareth Evans, of the University of Manchester at St Mary’s Hospital, Manchester, UK, said the study showed that it is possible to gather risk information and—using a good risk stratification model—provide accurate assessments of women’s risk of breast cancer. To further improve the accuracy of screening models, mammographic density information and SNPs should be taken into consideration.
Individually, SNPs contributes to minor change in risk for breast cancer. However, when considered together, they may be useful in predicting larger differences in the risk for breast cancer. According to a recently published study in which Evans was the lead author, polygenic risk scores may be used to improve risk assessment for women at increased familial risk who tested negative or have low likelihood of BRCA1 or BRCA2 mutations. [J Med Genet 2017;54(2):111–113]
In the UK, the first mammography screening appointment for women between the ages of 47 and 50 provides an opportunity to assess the risk for breast cancer and inform women of preventive measures. Soon, risk-stratified screening may also be included in the agenda. Currently, the National Health Service (NHS) breast screening programme already provides screening with MRI for women at high familial risk.