Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting

Dewkoemar Ramsoekh (1) , Monique E van Leerdam (1) , Anja Wagner (1) , Ernst J Kuipers (1) , Ewout W Steyerberg (1)

1 Erasmus MC - Erasmus University Medical Center [Rotterdam]

The identification of Lynch syndrome is hampered by the absence of specific diagnostic features and underutilization of genetic testing. Prediction models have therefore been developed, but they have not been validated for a clinical genetic setting. The aim of the present study was to evaluate the usefulness of currently available prediction models.

Mots clés: Gastroenterology; Clinical genetics; Genetic screening/counselling

Dewkoemar Ramsoekh, Monique E van Leerdam, Anja Wagner, Ernst J Kuipers, Ewout W Steyerberg. Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting. Journal of Medical Genetics, 2009, 46 (11), pp.745. ⟨10.1136/jmg.2009.066589⟩. ⟨hal-00552693⟩