Individual research recommendation details

Recommendation ID

CG164/1

Question

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

Number

CG164

Date issued

June 2013

Other details