Table 2 |
|||||||
|
Deleterious mutations including frame-shift, nonsense and splice site deleterious mutations identified in Malaysian breast cancer patients |
|||||||
| No. |
Exon |
Nucleotide change |
AA change |
Reported |
Family (No.) |
Ethnicity |
|
|
|
|||||||
| 1 |
BRCA1 |
2 |
180 delA |
STOP 22 |
Novel |
1 |
Indian |
| 2 |
2 |
185 delAG |
STOP 39 |
Ashkenazi Jews, others |
1 |
Indian |
|
| 3 |
2 |
185 insA |
STOP 40 |
Caucasian, European |
1 |
Chinese |
|
| 4 |
8 |
589 delCT |
STOP 157 |
Caucasian, Caribbean |
1 |
Chinese |
|
| 5 |
11 |
1100 delAT |
STOP 328 |
Caucasian, Chinese [10,16] |
1 |
Chinese |
|
| 6 |
11 |
1173 G>T |
E352X |
Caucasian |
1 |
Indian |
|
| 7 |
11 |
1323 G>T |
E402X |
Novel |
1 |
Malay |
|
| 8 |
11 |
3889 delAG |
STOP1265 |
Various |
1 |
Chinese |
|
| 9 |
13 |
4377 C>T |
Q1420X |
Caucasian, African-American |
1 |
Chinese |
|
| 10 |
20 |
5370 C>T |
R1751X |
Various |
1 |
Indian |
|
| 11 |
IVS 3+1 G>T |
Novel |
1 |
Chinese |
|||
| 12 |
IVS 3+2 delT |
Novel |
1 |
Chinese |
|||
| 13 |
IVS 4-1G>C |
Novel |
1 |
Indian |
|||
| 14 |
IVS 5-12 A>G |
Various |
1 |
Chinese |
|||
|
|
|||||||
| 1 |
BRCA2 |
3 |
490 delCT |
STOP 99 |
Novel |
2 |
Malay |
| 2 |
10 |
1184 insA |
STOP 326 |
Caucasian |
1 |
Chinese |
|
| 3 |
10 |
2001 del4 |
STOP 612 |
Caucasian |
1 |
Chinese |
|
| 4 |
11 |
2699 del6 |
STOP 824 |
Novel |
1 |
Malay |
|
| 5 |
11 |
2864 delCT |
STOP 879 |
Novel |
1 |
Chinese |
|
| 6 |
11 |
4265 delCT |
STOP 1350 |
Filipino |
1 |
Malay |
|
| 7 |
11 |
6195 insA |
STOP 2002 |
Novel |
1 |
Malay |
|
| 8 |
11 |
6553 delGT |
STOP 2109 |
Novel |
1 |
Chinese |
|
| 9 |
11 |
6901 delA |
STOP 2228 |
Novel |
1 |
Chinese |
|
| 10 |
11 |
6943 G>T |
E2239X |
Novel |
1 |
Chinese |
|
| 11 |
22 |
9097 C>T |
Q2957X |
Novel |
1 |
Indian |
|
| 12 |
23 |
9326 insA |
STOP 3042 |
Various |
1 |
Chinese |
|
| 13 |
IVS 17+1 G>A |
Caucasian |
1 |
Chinese |
|||
|
|
|||||||
|
Thirthagiri et al. Breast Cancer Research 2008 10:R59 doi:10.1186/bcr2118 |
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