Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

D Gareth R Evans (1) , Fiona Lalloo (2) , Angela Cramer (3) , Elizabeth Jones (4) , Fiona Knox (5) , Eitan Amir (6) , Anthony Howell (3)

1 St Mary's Manchester
2 St Marys Hospital, Manchester
3 The Christie
4 St Mary's Hospital Manchester
5 Wythenshawe Hospital
6 Division of Medical Oncology, Princess Margaret Hospital, Toronto, M5G 2M9

Selection for genetic testing of BRCA1/BRCA2 is an important area of healthcare. Whilst testing costs for mutational analysis are falling, costs in North America remains in excess of US $3,000 (UK price can be £690). Guidelines in most countries use a 10-20% threshold of detecting a mutation in BRCA1/2 combined within a family before mutational analysis is considered. A number of computer based models have been developed. However, use of these models can be time consuming and difficult to use. The Manchester scoring system was developed in 2003 to simplify the selection process without losing accuracy.

Keywords: Diagnostics tests; Guidelines; Obstetrics and Gynaecology; Cancer: breast; Genetic epidemiology

D Gareth R Evans, Fiona Lalloo, Angela Cramer, Elizabeth Jones, Fiona Knox, et al.. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. Journal of Medical Genetics, 2009, 46 (12), pp.811. ⟨10.1136/jmg.2009.067850⟩. ⟨hal-00552701⟩