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

• Autori principali: Eiberg Hans (Autore), Filtenborg-Barnkob Bettina (Autore), Albrechtsen Anders (Autore), Jønson Lars (Autore), Bisgaard Marie (Autore), Hansen Thomas (Autore), Ejlertsen Bent (Autore), Nielsen Finn C (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2008-07-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...