Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia

We present two cases of black South African patients with FA diagnosed with biallelicBRCA2 mutations and discuss the phenotypic consequences and implications for them and their families. Recognition of this severe end of the phenotypic spectrum of FA is critical in allowing for confirmation of the diagnosis as well as cascade screening and appropriate care of family members.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research