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Women's Health Weekly

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Cancer



New cancer research from T.V.O. Hansen and colleagues discussed



September 18th, 2008

"BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered," scientists in Copenhagen, Denmark report.

"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. Variations were identified by denaturing high performance liquid chromatography (dHPLC) and sequencing of the BRCA1 and BRCA2 genes. The effect of the mutation on splicing was examined by exon trapping in COS-7 cells and by RT-PCR on RNA isolated from whole blood. The paternity was determined by single...


Source: Women's Health Weekly (2008-09-18)

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