Table 1

Phenotypes of FAP patients without an identified APC mutation

Family/ patientPhenotype of polyposisNo of polypsAge at diagnosisCancerEM
18/1Yes>10041
18/6Yes>3013
18/101Yes
18/102Yes
18/103Yes
18/104Yes
1465/2Yes64
1465/7Yes>1031
1465/10164Oesophagus/lung
1465/102Stomach
1465/103YesColon
1505/1Yes>10048Rectum
1522/1Yes46Rectum
1545/1Yes54
1546/1Yes>10021SIP
1551/1Yes47
1551/2Yes
1551/101Colon
1552/1Yes72MeningiomaDesmoid
1596/1Yes39
1596/101Yes37
1596/102Yes31
1596/103Yes
1596/104Yes22
1596/10538GIT
1596/10650GIT
1596/10750GIT
1596/108Yes
1665/1Yes54Osteoma
1666/1Yes>1056
1666/101Yes45Colon
1666/10260Colon
1666/10327Sarcoma
1705/1Yes48
1724/1Yes>10046Sigmoid
1724/2Yes<10044
1724/10140GIT
1724/102Yes>10063Rectum
1724/10341GIT
1724/10445CSU
1736/1Yes46Colon
  • EM - extracolonic manifestations, SIP - small intestinal polyps, GIT - gastrointestinal tract, CSU - cancer site unknown, blank - data unknown.