Homozygous hypomorphic <i>BRCA2</i> variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

Abstract

We describe the functional assessment of a homozygous hypomorphic <i>BRCA2</i> variant in a patient with POI without cancer or FA trait. Our findings extend the phenotype of BRCA2 biallelic alterations to fully isolated POI. This study has a major impact on the management and genetic counselling of patients with POI.