A homozygous hypomorphic BRCA2 variant causes primary ovarian insufficiency without cancer or Fanconi anemia traits.
Sandrine Caburet, Abdelkader Heddar, Elodie Dardillac, Helene Creux, Marie Lambert, Sébastien Messiaen, Sophie Tourpin, Gabriel Livera, Bernard S. López, Micheline Misrahi
This study identifies a BRCA2 variant causing primary ovarian insufficiency without cancer or Fanconi anemia, showing residual HR function in patient cells.
Journal of Medical Genetics · Jun 1, 2020Peer-reviewedGenetics