Table 1 Mutation spectrum and numbers of families and patients by mutation
Gene | Mutation | Number of families | Number of patients |
|---|---|---|---|
BRCA1 | ex 10 782 del AA | 1 | 1 |
ex 11 1047 C→T | 1 | 1 | |
ex 11 1731 C→T | 1 | 2 | |
ex 11 1806 C→T | 1 | 1 | |
ex 11 1924 del A | 1 | 1 | |
ex 11 2592 ins A | 1 | 2 | |
ex 11 2803 del AA | 1 | 3 | |
ex 11 3604 del A | 3 | 3 | |
ex 11 3744 del T | 2 | 2 | |
ex 11 3904 C→A | 1 | 1 | |
ex 11 4153 del A | 1 | 1 | |
int 11 4216 (- 2) A→G | 4 | 9 | |
ex 13 4446 C→T | 2 | 14 | |
ex 14 4599 G>T | 1 | 3 | |
ex 17 5145 del 11 | 1 | 4 | |
ex 20 5370 C→T | 1 | 1 | |
ex 20 5382 ins C | 2 | 2 | |
Any | 25 | 51 | |
BRCA2 | ex 9 999 del TCAAA | 5 | 22 |
ex 10 1822 G→T | 1 | 1 | |
ex 11 4075 del GT | 1 | 1 | |
ex 11 4081 ins A | 1 | 2 | |
ex 11 5797 G→T | 1 | 1 | |
ex 11 6496 del CA | 1 | 2 | |
ex 11 6503 del TT | 1 | 1 | |
ex 15 7708 C→T | 3 | 12 | |
ex 18 8555 T→G | 1 | 6 | |
int 23 9346 (- 2) A→G | 5 | 11 | |
Any | 20 | 59 | |
Non-BRCA1/2 | 74 | 152 |