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Fig. 3 | Hereditary Cancer in Clinical Practice

Fig. 3

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. 3

Analysis of the BRCA1 variant c.641A>G. a Agarose gel showing PCR products amplified using primers specific for exon 9 and exon 11 of the BRCA1 gene. P is the patient sample while C is the control sample. Puromycin treated (+) and puromycin non-treated (-) are indicated in the figure. M is the 100bp ladder size marker (Promega). The band at 228bp represents the fragment amplified from exon 9 to exon 11 and includes exon 10. The band at 151bp represents the fragment lacking exon 10. b Sequencing analysis of the 228bp band for the patient indicates the presence of the c.641A allele (arrow), but not c.641G. c Sequencing of the 228bp band for the control sample indicates the presence of the c.641A allele

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287