Table 1

Clinical characteristics of individual family members

Subject no Age (y) Sex Gene status Examination type Age at examination Number of colon polyps Colon cancer (Y/N) Age at cancer diagnosis Extracolonic manifestations
Family 1
I:279FNKColonoscopy74>100NN/ANK
II:154FSigmoidoscopy540NN/ANone
II:253M+Colonoscopy48>100Y48None
II:552F+Colonoscopy466NN/ALipomas, gastric polyps1-150
II:650F+Colonoscopy444NN/AGastric polyps1-150
III:124MNKSigmoidoscopy210NN/ANK
III:223F+Sigmoidoscopy220NN/ANone
III:329M+Sigmoidoscopy291NN/ALipomas
III:428M+Sigmoidoscopy270NN/ALipomas
III:525FSigmoidoscopy240NN/ANone
Family 2
I:2N/AFNKNKNKNKY46NK
II:160M+Colonoscopy51>100NN/AOsteoma, adrenal tumour, gastric and duodenal polyps1-150
III:134M+Colonoscopy336NN/ASebaceous cysts
III:232FNKColonoscopy28>100NN/AGastric polyps, desmoid tumours, osteomas1-150
III:329FNKColonoscopy25>100NN/ADesmoid tumours, sebaceous cysts
III:419M+Colonoscopy180NN/ANone
Family 3
I:1NKMNKNKNKNKYNKPancreatic cancer
II:151M+Colonoscopy50>100NN/ANone1-150
III:118MNKNoneN/AN/ANN/ANK
III:214MNKNoneN/AN/ANN/ANK
I:158M  NKNoneN/ANKNN/ALiver or bladder cancer
II:268F+Colonoscopy51>100NN/AOsteomas, fibrosarcoma, lipoma, desmoids, duodenal polyps1-150
II:367MNKColectomy60>100Y60Osteoma, bladder cancer
II:573MNKColectomy59>100NN/ANone
II:671MNKSigmoidoscopy540NN/ANone
III:147MNKNoneN/AN/AY46Epidermoid cysts, desmoids, cancer-multiple primaries
III:245FNKColonoscopy36>100NN/ADesmoid1-150
III:339MNKSigmoidoscopy230NN/ANone
III:435MNKSigmoidoscopy190NN/ANone
III:541FNKColonoscopy400NN/AJaw lesion, hepatoma, desmoid1-150
III:650FNKColonoscopy330NN/AJaw lesion
  • 1-150 Upper endoscopy performed.

  • NK, not known; N/A, not applicable.