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Update on the Manchester Scoring System for BRCA1 and BRCA2 testing
  1. D G R Evans1,
  2. F Lalloo1,
  3. A Wallace1,
  4. N Rahman2
  1. 1Academic Unit of Medical Genetics, Regional Genetics Service and National Genetics Reference Laboratory, St Mary’s Hospital, Manchester M13 0JH, UK
  2. 2Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
  1. Correspondence to:
 Professor D G R Evans
 University Department of Medical Genetics and Regional Genetic Service, St Mary’s Hospital, Hathersage Road, Manchester, M13 0JH, UK; gareth.evanscmmc.nhs.uk

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We recently published a new scoring system to estimate the chance of identifying mutations in the BRCA1 and BRCA2 genes (table 1).1 A potential criticism of the original paper was that not all cases were fully screened for mutations in both BRCA1 and BRCA2. We have now extended our analyses to address this. In total, we have screened 921 samples from familial breast cancer pedigrees from the Manchester region through the whole coding sequence and intron/exons boundaries of both genes. In addition, 200 cases, with all cases …

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