Fig. 2.

Confirmation by Sanger sequencing of the germline, 5 bp deletion in the tumor sample from a 37 y/o patient diagnosed with adenocarcinoma. This mutation represents the most frequently mutated codon in the APC gene. The DNA samples extracted form both the tumor and the healthy, adjacent tissues were sequenced on one SMRT cell. By means of third generation sequencing, the deletion was identified with frequencies of 48.22% and 68.61% in the normal (A) and the tumor (B) tissues, respectively (P < 1e-256 in both cases, Fisher's exact test).