Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

A.C. Antoniou, R. Hardy, L. Walker, D.G. Evans, A. Shenton, R. Eeles, S. Shanley, G. Pichert, L. Izatt, S. Rose, F. Douglas, D. Eccles, Patrick Morrison, J. Scott, R.L. Zimmern, D.F. Easton, P.D.P. Pharoah

Research output: Contribution to journalArticle

133 Citations (Scopus)

Abstract

Objectives: Genetic testing for the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has important implications for the clinical management of people found to carry a mutation. However, genetic testing is expensive and may be associated with adverse psychosocial effects. To provide a cost-efficient and clinically appropriate genetic counselling service, genetic testing should be targeted at those individuals most likely to carry pathogenic mutations. Several algorithms that predict the likelihood of carrying a BRCA1 or a BRCA2 mutation are currently used in clinical practice to identify such individuals.
Original languageEnglish
Pages (from-to)425-431
Number of pages7
JournalJournal of Medical Genetics
Volume45
Issue number7
DOIs
Publication statusPublished - Jul 2008

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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