Novel de novo BRCA2mutation in a patient with a family history of breast cancer
Open Access
- 2 July 2008
- journal article
- case report
- Published by Springer Nature in BMC Medical Genetics
- Vol. 9 (1) , 58
Abstract
BRCA2 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 characterization of a novel de novo BRCA2 splice site mutation found in a patient exhibiting a ductal carcinoma at the age of 40.Keywords
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