Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

• Autori principali: Jean Pascal Demba Diop (Autore), Rokhaya Ndiaye Diallo (Autore), Violaine Bourdon-Huguenin (Autore), Ahmadou Dem (Autore), Doudou Diouf (Autore), Mamadou Moustapha Dieng (Autore), Seydi Abdoul Ba (Autore), Yacouba Dia (Autore), Sidy Ka (Autore), Babacar Mbengue (Autore), Alassane Thiam (Autore), Oumar Faye (Autore), Papa Amadou Diop (Autore), Hagay Sobol (Autore), Alioune Dieye (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2019-05-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from multiple ethnicities, but limited information is available from sub-Saharan African populations. We report a BRCA2 pathogenic variant in a Senegale...