Journal of Genetic Syndromes & Gene Therapy
Open Access

Abstract

Value of Phenotypic and Single-Nucleotide Polymorphism Panel Markers in Predicting the Risk of Breast Cancer

Adam R Brentnall, D Gareth Evans and Jack Cuzick

The risk of breast cancer from a number of SNPs (Single-Nucleotide Polymorphisms) has recently been estimated singly by COGS (Collaborative Oncological Gene-Environment Study). We assessed how the predicted risk from a panel of SNPs would compare with classical phenotypic factors including age, family history and parity, and how much it might add to risk assessment. The analysis was based on prospective data from ten thousand women of routine screening age enrolled into the UK Predicting Risk of Breast Cancer at Screening (PROCAS) study, and computer simulation SNP scores. We found that the current panel of 67 SNPs was less able to identify high-risk women than classical phenotypic factors, but if they can be treated independently, then in combination a substantially increased predictive effect might be seen. The proportion of women in the PROCAS cohort with a 10- year risk of more than 8% increased from 0.5% using age and the SNP67 score; to 1.1% using the phenotypic factors in the Tyrer-Cuzick model; to 3.3% when combined.