Wolfson Institute of Preventive Medicine - Barts and The London

Role of low penetrance SNPs in risk assessment of breast cancer

Centre for Cancer Prevention

Project Investigator:  Professor Jack Cuzick


Genome-wide association studies (GWAS) have identified a host of new low penetrance genes for a range of cancers.

Our long term goal is to determine their value in breast, prostateand colorectal cancers where we are developing risk assessment tools.  The work is most developed for breast cancer where we already have developed a very widely used risk assessment tool (Tyrer-Cuzick model).

We have found that in our IBIS-1 prevention trial a SNP score adds to conventional factors in the Tyrer-Cuzick model.

Current work is exploring the utility of a SNP score in a routine screening population and determining how best to integrate it into a model containing classical factors and breast density in collaboration with colleagues in Manchester and Sweden.

Further work will expand these approaches to prostate and colorectal cancer.