DOID
DOID:630
Description

A disease that has_material_basis_in genetic variations in the human genome. [1]

Code
UMLS_CUI:C0019247

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.

BACKGROUND: Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used ...

Manchester Scoring System

The "Manchester Scoring System" is an empirical mutation risk prediction model. In its current form, a risk score for the identification of a pathogenic BRCA1/2 mutation is being calculated based on t...

Claus

The Claus model is a genetic breast cancer risk calculation model assuming a single rare, highly penetrant gene. The extended version of the Claus model (eClaus), as implemented in the commercial pedi...