Reported cytogenetically detected deletions of the APC gene and the corresponding phenotypes
| No. of families | Author | Year | Deletion chromosome 5 | Mode of diagnosis | Age at diagnosis | Colorectal polyps | Colorectal polyp distribution | Colectomy (age in years) | CRC (age in years) | Extraintestinal |
|---|---|---|---|---|---|---|---|---|---|---|
| *Patient 630, already mentioned in table 1. | ||||||||||
| 1 | Herrera | 1986 | q15–q22 | Symptoms | 42 | >100 | 42 | Desmoid tumour | ||
| 1 | Hockey | 1989 | q15–q22 | 27 | 27 | Dental anomalies, epidermoid cysts | ||||
| q15–q22 | 31 | 31 | Dental anomalies, epidermoid cysts | |||||||
| q15–q22 | Extensive | 42 | ||||||||
| 1 | Kobayashi | 1991 | q22.1–q31.1 | Symptoms | 15 | >500 | Throughout | Osteomas, dental anomalies, epidermoid cysts, CHRPE | ||
| 2 | Lindgren | 1992 | q15–q23.2 | Symptoms | 20 | 300 (30y) | 30 | |||
| q15q22 | Call up | 13 | 1 | Epidermoid cysts | ||||||
| 1 | Cross | 1992 | q22–q23.2 | Symptoms | 25 | >100 | Mainly proximal | Epidermoid cysts, ostemas, CHRPE | ||
| q22–q23.2 | Symptoms | 54 | Multiple | CHRPE | ||||||
| 2 | Hodgson | 1993 | q21.3–q23.1 | Symptoms | 38 | >100 | Proximal | 38 | No | Epidermoid cysts, desmoid tumour, duodenal polyps |
| q21.3–q23.1 | Symptoms | 20 | >100 | Mainly proximal | CHRPE, dental anomalies | |||||
| 2 | Olschwang | 1993 | APC region | CHRPE | ||||||
| 1 | Barber | 1994 | q15–q22.3 | Symptoms | 43 | Hundreds | 43 | |||
| 1 | Pilarski | 1999 | q22–q23.2 | No | 39 | 50–60 | Mainly proximal+distal | No CHRPE | ||
| 1 | Raedle * | 2001 | q21–q22 | Symptoms | 18 | >100 | Mainly distal | 18 | no | Desmoid tumour, no osteomas, no CHRPE |