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Fig. 2 | Hereditary Cancer in Clinical Practice

Fig. 2

From: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans

Fig. 2

Analysis of the BRCA1 mutation c.594-2 A > C by agarose gel electrophoresis. PCR products amplified using primers specific for exon 8 and exon 11 of the BRCA1 gene. P is the patient sample and C is the control sample. Puromycin treated (P+) and puromycin non-treated (P −) are indicated in the figure. M is the 100 bp DNA ladder (Promega). Three different transcripts are present in the proband (P) representing a wildtype fragment, a fragment lacking exon 10 and a fragment representing the Δ9/10 isoform Only the wildtype fragment and the Δ9/10 isoform are present in the control sample (C)

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