Table 1.
Disease characteristics of the 18 families tested by MLPA
| Family number | CRC Y/N (age in years) | Other cancers Y/N (type and age) | Male/Female | Amsterdam I |
Amsterdam II |
Bethesda | hMSH2 | hMLH1 |
|---|---|---|---|---|---|---|---|---|
| ex 16 Intronic substitution at splice site | ||||||||
| 1 | Y (49) | N | F | Y | N | N | position -2635-3 C>G | |
| 2 | Y (47) | N | M | N | N | Y | ex 1-2 del | |
| Apparent ex 11 del due to 1706-1707 delAA (Stop at codon 570) | ||||||||
| 3 | N | Y (Ampulla Ca 52) | F | N | Y | N | exs 2-12 del | |
| 4 | Y (46, died 50) | N | F | N | N | N | (whole gene) | |
| 5 | N | Y (Endometrial >40) | F | Y | Y | Y | exs 7-8 del | |
| Apparent ex 9del due to 728-732del ATGGT (codon 243 -> Stop at codon 305 | ||||||||
| 6 | Y (50) | N | F | N | N | N | ||
| 7 | Y (43,45) | N | M | Y | Y | Y | exs 9-14 del | |
| 8 | Y (25, 48, 59) | Y (Gastric 55) | F | Y | Y | Y | ex 8 del | |
| 9 | Y (Unknown) | N | M | Y | Y | Y | exs 1-2 del | |
| 10 | Y (45, died 48) | N | F | N | Y | Y | exs 1-7 | |
| 11 | Y (>50) | Y (Cervical Ca 38) | F | N | N | N | exs 1-2 | |
| 12 | Y (18) | N | F | N | N | N | exs 11-16 | |
| 13 | Y (45, 46) | N | M | Y | Y | Y | exs 5 | |
| 14 | Y (41, 41) | N | M | Y | Y | Y | exs 7-11 del | |
| 15 | Y | N | M | exs 9&10 | ||||
| 16 | N | Y (Ovarian & Endo 46) | F | N | Y | Y | ex 8 del | |
| 17 | Y (34) | N | M | Y | Y | Y | exs 4 to 6 dup | |
| 18 | Y (70) | N | F | N | N | N | ex 9 to 11 dupl. | |