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Summary of the gap analysis for the genetics of breast cancer |
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| 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. |
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| What are the gaps? |
Detailed understanding of the actions of BRCA1 and BRCA2. |
| Knowledge of large-scale genetic rearrangements in tumour cells. |
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| The important variants, effects and interactions of low-penetrance genes. |
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| Further identification of point mutations and epigenetic changes. |
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| Problems |
The quality, quantity and accessibility of materials. |
| Funding for large-scale experiments (such as sequencing) using expensive equipment. |
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| Bioinformatic analysis skills. |
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| 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. |
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| Generate new, targeted therapies based on target discovery. |
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| Better genetic risk estimation. |
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| 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. |
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| Encourage research involving intermediate phenotypes. |
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Thompson et al. Breast Cancer Research 2008 10:R26 doi:10.1186/bcr1983 |
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