Development of a scoring system to screen for BRCA1/2 mutations.
作者： Gareth R. Evans , Fiona Lalloo
DOI: 10.1007/978-1-60761-759-4_14
关键词: Breast cancer 、 Scoring system 、 Mutation (genetic algorithm) 、 Mutational analysis 、 Demography 、 Incidence (epidemiology) 、 Selection (genetic algorithm) 、 Medicine 、 Genetic testing
摘要: Selection for genetic testing pathogenic mutations in BRCA1 and BRCA2 is an important area of healthcare. While costs mutational analysis are falling, tests North America remain excess $3,000. Most countries state that there should be at least a 10-20% likelihood detecting mutation or within family before performed. A number computer-based models have been developed to assess this likelihood, these continue improved incorporate frequencies, breast cancer incidence tumour histology. However, can time-consuming difficult use busy clinic. The Manchester scoring system was 2003, we continued validate its Western populations. discriminates well both the 10 20% threshold compares very with more complex models. it not used current form founder populations low cancer, although lower points could determine appropriate cut off. development score comparison other will described chapter.
manchester.ac.uk
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