MSK-IMPACT, long-range PCR and sequencing results after gel extraction. A, IGV shows aberrant sequence in exon 12 of MSH2. B, LR-PCR products run on 1% agarose gel. An extra band were observed in the patient, but not in controls. C, Electropherogram showing the site of insertion. D, Partial inserted sequences in red in anti-sense orientation with respect to the MSH2 gene transcription direction. Target site duplication is highlighted in yellow. DNA sequence in the first row matches with those in reverse direction in b