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Fig. 2 | BMC Cancer

Fig. 2

From: Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

Fig. 2

mRNA analysis of the c.49-1G > A variant in PALB2 a. Chromatograms of sequencing analysis of genomic DNA of a patient carrying the c.49-1G > A variant in PALB2. b. RT-PCR products on 3% agarose gel. Lanes 1 and 2: the sample of the patient with the variant, Lane 3: normal sample, Lane 4: negative control, Lane 5: 100 bp DNA Ladder (New England Biolabs). c. Chromatograms of sequencing analysis of cDNA from the same patient showing that this splicing variant leads to the in-frame deletion of two amino acid residues, p.Leu17_Lys18 (bottom panel) compared to the sequencing analysis of a wild type sample (top panel)

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