Fig. 1

Family pedigree for the familial PMS2 mutation NM_000535.5:c.1500del (p.Val501TrpfsTer94) in exon 11, of a family of Pakistani ethnic origin living in the UK. The proband (III:3, arrow), is homozygous for this PMS2 mutation. She presented with café-au-lait lesions, lichen planus, a dermoid cyst, and bleeding per-rectum. She has developed 37 benign colorectal adenomatous polyps to date. She has developed ovarian and endometrial cancer (both at age 26) and gastric cancer (age 28). III:1 developed a parietal lobe astrocytoma (age 10) and a caecal adenocarcinoma of which she died (age 20); her mutation status is unknown, however III:1’s history is representative of true Turcot syndrome. III:9 died of a brain tumour (age 17); her mutation status is unknown. III:5 has declined genetic testing for the time being. II:5 and II:6, II:7 and II:8, II:11 and II:12 are distant cousins