| Family PersID | Diagnosis/number of adenomas | Age | Colorectal carcinoma (C) and Dukes stage | Extra-colonic | Investigated material* | Mutation | Mosaicism (% represents proportion of affected alleles quantified with pyroseqencing) | Method of detection of mosaicism | Fig. | ||
| Nucleotide | Protein | ||||||||||
| 1 | 51887.1 | 100s | 31 | No | No | L (n = 1) | 847C>T | Arg283X | 28% | DGGE | 1 |
| Sequence | |||||||||||
| 2 | 53124.1 | 100s | 42 | C42 | FGP desmoid | L (n = 2) | 847C>T | Arg283X | 17% | DGGE | 1 |
| Rectum, B1 | Sequence | ||||||||||
| 3 | 53696.1 | AFAP | 41 | C40 | Not examined | L (n = 2) | 847C>T | Arg283X | 5% | DGGE | 1 |
| Sigmoid | Sequence | ||||||||||
| 4 | 53253.1 | 30–50 | 49 | C50 | Not examined | L (n = 4) | 646C>T | Arg216X | Lymphocytes 6% | DGGE (adenomas and lymphocytes) | 3 |
| Sigmoid, B2 | A (n = 3) | Adenoma 1 80% | Sequence (adenomas only) | ||||||||
| Adenoma 2 80% | |||||||||||
| 5 | 19014.3 | Numerous polyps | 40 | No | 5–10 duodenal polyps | L (n = 3) | 1778G>A | Trp593X | Lymphocytes 31% | DGGE | 2 |
| Sequence | |||||||||||
| 6 | 19015.3 | No symptoms | 71 | Not examined | Not examined | L (n = 2) | 896_897 delCT | Ser299fs | Lymphocytes 0% | DGGE | 2 |
| F (n = 1) | Skin fibroblasts 0% | Sequence (mutation only detectable in offspring) | |||||||||
| 7 | 19211.1 | ∼100 | 45 | No | Glioblastoma | L (n = 1) | 4308 delT | Ser1436fs | Lymphocytes 0% | PTT | |
| A (n = 5) | Adenoma 1 16% | Sequence | |||||||||
| Adenoma 2 21% | |||||||||||
| 8 | 53538.1 | 100s | 36 | No | Duodenal polyps | L (n = 2) | 3927_3931 del5 | Ser1309fs | Lymphocytes 30% | PTT | |
| Sequence | |||||||||||
| 9 | 19229.2 | 100s | 35 | C35Sigmoid, C2 | Two duodenal adenomas | L (n = 3) | 3925_3926 delGA | Ser1309fs | Lymphocytes 25% | PTTSequence | |
| 10 | 53037.1 | 35 | 73 | No | Not examined | L (n = 1) | 3067dupA | Thr1023fs | Lymphocytes 15% | PTT | |
| Sequence | |||||||||||
The mutations were initially identified by DGGE (cases 1–6) or PTT (cases 7–10), characterised by direct DNA sequencing and quantified using pyrosequencing. In cases 1 and 10, only one DNA sample was available; in the other cases the mutant allele could be confirmed in independent DNA samples.
AFAP, attenuated familial adenomatous polyposis; C, colorectal carcinoma; DGGE, denaturing gradient gel electrophoresis; FAP, familial adenomatous polyposis; FGP, fundic gland polyposis; PTT, protein truncation test.
*n = number of samples. DNA isolated from: A, adenoma; F, skin fibroblasts; L, lymphocytes.