Grant Holder |
Researcher |
Completed project Institute Amount Awarded Duration Type of Award |
Title
The development of Melt-MADGE mutation scanning for the BRCA1 gene
Synopsis
At present, genetic tests for breast cancer are restricted to women who are likely to have mutations in the known breast cancer genes, BRCA1 and BRCA2. The gene itself is large and mutation screening is time consuming and expensive. Dr Eccles aims to develop a technique previously used in research studies with a large number of samples to be studied, and to assess the sensitivity, specificity and cost of this method of mutation analysis in comparison with current techniques. If successful, it may allow less expensive testing which would enable more patients to be offered genetic testing within an allocated NHS budget.
Aims & Goals
"To develop a highly sensitive, cost effective screening method for detecting BRCA1 gene mutations To develop a robust technique suitable for wider application in very large number of samples for rapid results. "
Updates
Dr Diana Eccles completed project at the University of Southampton successfully optimised a genetic screening technique looking at BRCA1 and BRCA2 genes. Her technique is being considered for use by the National Genetics Laboratory in Salisbury.
Publications
| Title | MeltMADGE: economical very high throughout mutation screening using thermal ramp electrophoresis in conjunction with MADGE (microplate array) gels |
| Year | 2004 |
| Authors | Day INM, Al-Dahmesh MA, Haddad L, Alharbi KK, Chen X, Rassoulin H, Humphries SE, Spanakis E, Eccles D. |
| Title | Paucimorphic alleles versus polymorphic alleles in disease causation: theory, observation and detection. |
| Year | 2004 |
| Authors | Day INM, Al-Harbi K, Smith M, Al Dahmesh M, Zhang B, Lotery A, Cross NCP, Ye S, Eccles D, Fox K, Rodriguez S. |
| Title | Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population |
| Year | 2006 |
| Authors | Khalid K. Alharbi, Mohammed A. Aldahmesh, Emmanuel Spanakis, Lema Haddad, Roslyn A. Whittall, Xiao-he Chen, Hamid Rassoulian, Matt J. Smith, Julie Sillibourne, Nicola J. Ball, Nikki J. Graham, Patricia J. Briggs, Iain A. Simpson, David I.W. Phillips, Deb |
Presentations
| Title | The application of microplate array diagonal gel elctrophoresis (melt-MADGE) to high throughput inexpensive BRCA1 mutation analysis. |
| Year | 2001 |
| Authors | Aldahmesh, M., Spanakis, E., Day, INM., and Eccles, D |
| Title | The application of Melt-MADGE (microplate-array diagonal gel electrophoresis) for inexpensive high throughput screening for BRCA1 gene mutations. |
| Year | 2003 |
| Authors | Diana M Eccles, Mohammed Al-dahmesh, Ian NM Day |
