Novel <it>de novo BRCA2 </it>mutation in a patient with a family history of breast cancer

• Principais autores: Eiberg Hans (Autor), Filtenborg-Barnkob Bettina (Autor), Albrechtsen Anders (Autor), Jønson Lars (Autor), Bisgaard Marie (Autor), Hansen Thomas (Autor), Ejlertsen Bent (Autor), Nielsen Finn C (Autor)
• Formato: Livro
• Publicado em: BMC, 2008-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p><it>BRCA2 </it>germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered. We describe the parental origin and functional characteriza...