FIGURE 3.

APC pathogenic variant segregates with the cancer phenotype in the family of patient P27. The patient P27 is indicated with the black arrow. P27, her mother, sister, and niece are carriers of the pathogenic p. Cys1249* variant in the APC gene, which was identified by exome sequencing in the patient, and validated by Sanger sequencing in their indicated relatives. Her mother and sister had colon polyps and stomach polyps, respectively. The maternal grandmother and uncle had colon cancer (both are dead).