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

• 主要な著者: Eiberg Hans (著者), Filtenborg-Barnkob Bettina (著者), Albrechtsen Anders (著者), Jønson Lars (著者), Bisgaard Marie (著者), Hansen Thomas (著者), Ejlertsen Bent (著者), Nielsen Finn C (著者)
• フォーマット: 図書
• 出版事項: BMC, 2008-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...