Fig. 3

Family pedigree and genetic testing. A Proband’s pedigree revealed colon cancer findings in their seventies and eighties, respectively. B Sanger sequencing confirmed a homozygous mutation in MSH6 exon 5. The deletion of C at 3261 results in an amino acid change from CCC to CCT and a change in amino acid 1089 to the stop codon (TAG). The parents of the patient are carriers of the MSH6 c.3261delC mutation, MSH6, mutS homolog 6