Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in NF1. Recently, NF1 testing has been included as a clinical criterion for NF1 diagnosis. Additionally, preconception genetic counselling in patients with NF1 focuses on a 50% risk of transmitting the familial variant as the risk of having a sporadic NF1 is considered the same as the general population. Methods 829...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Neurofibromatosis and Schwannoma Cases
• Share to Sarcoma Diagnosis and Treatment
• Share to Soft tissue tumor case studies