Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing.
AffiliationUniversity of Manchester, Central Manchester Foundation Hospital NHS Trust, St Mary's Hospital, Manchester, UK. Gareth.firstname.lastname@example.org
MetadataShow full item record
AbstractSelection for genetic testing of BRCA1/BRCA2 is an important area of healthcare. Although testing costs for mutational analysis are falling, costs in North America remain in excess of US$3000 (UK price can be 690 pounds). 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. The Manchester scoring system was developed in 2003 to simplify the selection process without losing accuracy.
CitationAddition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. 2009, 46 (12):811-7 J Med Genet
JournalJournal of Medical Genetics
- Development of a scoring system to screen for BRCA1/2 mutations.
- Authors: Evans GR, Lalloo F
- Issue date: 2010
- Optimal selection of individuals for BRCA mutation testing: a comparison of available methods.
- Authors: James PA, Doherty R, Harris M, Mukesh BN, Milner A, Young MA, Scott C
- Issue date: 2006 Feb 1
- Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.
- Authors: Rutter JL, Smith AM, Dávila MR, Sigurdson AJ, Giusti RM, Pineda MA, Doody MM, Tucker MA, Greene MH, Zhang J, Struewing JP
- Issue date: 2003 Aug
- Molecular profile of ductal carcinoma in situ of the breast in BRCA1 and BRCA2 germline mutation carriers.
- Authors: van der Groep P, van Diest PJ, Menko FH, Bart J, de Vries EG, van der Wall E
- Issue date: 2009 Oct
- Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil.
- Authors: Gomes MC, Costa MM, Borojevic R, Monteiro AN, Vieira R, Koifman S, Koifman RJ, Li S, Royer R, Zhang S, Narod SA
- Issue date: 2007 Jul