Table 1 Summary of the gap analysis for the genetics of breast cancer

What do we know?

Multiple genes of different penetrance are involved in the predisposition to breast cancer.

Genome wide screens and somatic genetic approaches are identifying further genes involved in breast cancer.

What are the gaps?

Detailed understanding of the actions of BRCA1 and BRCA2.

Knowledge of large-scale genetic rearrangements in tumour cells.

The important variants, effects and interactions of low-penetrance genes.

Further identification of point mutations and epigenetic changes.

Problems

The quality, quantity and accessibility of materials.

Funding for large-scale experiments (such as sequencing) using expensive equipment.

Bioinformatic analysis skills.

Translational implications

Classifying breast tumours according to the signalling pathways that are disrupted to predict prognosis and response to therapy.

Determining the relevance of somatic events to prognosis and response to therapy.

Generate new, targeted therapies based on target discovery.

Better genetic risk estimation.

Recommendations

Encourage development of research techniques to allow integrated analysis of sequence level, epigenetic and large-scale somatic changes.

Engage in national initiatives for activities such as high-throughput re-sequencing and UK controls.

Encourage research involving intermediate phenotypes.