Recommendation ID
Carrier probability calculation models:- Further research is recommended into developing and validating models for calculating carrier probability, which incorporate additional data, such as the molecular pathology of tumours and the prevalence of mutations in different ethnic groups. [new 2013]
Any explanatory notes
(if applicable)
Why this is important:- This guideline recommends offering genetic testing to people with a 10% likelihood of carrying a BRCA1/2 mutation. Models to assess the likelihood of a BRCA1/2 mutation need to be improved because their estimates still have wide confidence margins. Models are sensitive to population prevalence of mutations and need adjustment for pathological subtypes of breast and ovarian cancer, which are particularly associated with BRCA1 mutations. Improving the predictive powers of these models will provide more cost-effective testing.

Source guidance details

Comes from guidance
Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer
Date issued
June 2013

Other details

Is this a recommendation for the use of a technology only in the context of research? No  
Is it a recommendation that suggests collection of data or the establishment of a register?   No  
Last Reviewed 12/07/2013