Table 2

 Reported large submicroscopic deletions of the APC gene and the corresponding phenotypes

AuthorYearMethodNo. of FAP familiesMutation negativeNo. of deletions (% of unselected FAP families)*No. of deletions (% of mutation negative FAP families)*No. of deletions (% ofmutationnegativetypicalFAPfamilies)*Size of deletions in the APC geneAge at diagnosis (years)Colorectal polyps (CRC, age at diagnosis)Extraintestinal manifestation (number of affected families)
*Without proven splice site mutations.
Gismondi1998PCR, sequencing1310 bp, stop codon 157526Desmoid, osteomas, no CHRPE
deRosa1999Quantitative PCR, polymorphic markers1893 (17%)33%Whole gene>100 (CRC 36–42)Desmoids, osteomas, CHRPE
Whole gene28–35Hundreds (CRC 30–42)CHRPE
Whole gene29ProfuseOsteomas, CHRPE
Cao2000cDNA analysis (PTT)2882* (7%)25%Exon 1115–47Multiple->1000CHRPE
Exon 1443–50
Su2000cDNA analysis49223* (6%)14%Exon 11–12, exon 14
Flintoff2001Quantitative PCR68224 (6%)18%At least 8-3’, at least 8–15F, 15A–F62 (one patient)
Su2002cDNA analysis1Exon 1521Typical (innumerable polyps)Epidermoid cysts
1Exon 1542Attenuated (70–90)
Sieber2002Real-time PCR, polymorphic markers20373.5%12%6 whole gene26.5 (median)>100 colorectal polyps29%
This study2004MLPA1742615%48%14 whole gene, 12 partial deletions16–64Predominant typical23% (desmoids, epidermoid cysts)