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

• Main Authors: Eiberg Hans (Author), Filtenborg-Barnkob Bettina (Author), Albrechtsen Anders (Author), Jønson Lars (Author), Bisgaard Marie (Author), Hansen Thomas (Author), Ejlertsen Bent (Author), Nielsen Finn C (Author)
• 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...