Endocrine Abstracts

BRCA2, is a gene with a critical role in DNA repair and homologous recombination in somatic cells. Patients with BRCA2 biallelic mutations develop Fanconi Anemia (FA), a severe life-threatening condition characterized by pancytopenia and multiple malformations and malignancies, while women with monoallelic alteration are at high risk to develop breast or ovarian cancer (up to 60%). Primary Ovarian insufficiency (POI) affects 1% of women under forty and is a publi...