Table 5 |
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|
Family characteristics and pathological characteristics of breast cancers of individuals with deleterious BRCA1 and BRCA2 mutations |
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| Nucleotide change |
AA change |
Age of diagnosis of breast cancer |
No. of breast/ovarian cancers in family |
Mean age diagnosis (Breast cancer) |
No. of cases (Breast cancer ≤ 50) |
ER |
PR |
HER2 |
Grade |
||
|
|
|||||||||||
| BRCA1 |
180 delA |
STOP 22 |
55 |
2 |
43 |
1 |
- |
- |
- |
2 |
IDC |
| 185 delAG |
STOP 39 |
33 |
1 |
33 |
1 |
- |
- |
- |
3 |
IDC |
|
| 185 insA |
STOP 40 |
57 |
7 |
44 |
4 |
NA |
NA |
NA |
NA |
IDC |
|
| 589 delCT |
STOP 157 |
45 |
3 |
41 |
3 |
- |
- |
- |
NA |
IDC |
|
| 1100 delAT |
STOP 328 |
28 |
2 |
28 |
1 |
- |
- |
- |
3 |
IDC |
|
| 1173 G>T |
E352X |
45 |
3 |
45 |
1 |
- |
- |
- |
2 |
IDC |
|
| 1323 G>T |
E402X |
34 |
3 |
31 |
2 |
NA |
NA |
NA |
NA |
Sarcoma |
|
| 3889 delAG |
STOP1265 |
47 |
3 |
47 |
2 |
- |
NA |
+ |
NA |
DCIS/IDC |
|
| 4377 C>T |
Q1420X |
39 |
2 |
45 |
2 |
- |
- |
+/- |
3 |
IDC |
|
| 5370 C>T |
R1751X |
31 |
5 |
38 |
3 |
NA |
NA |
NA |
NA |
NA |
|
| IVS 3+1 G>T |
46 |
2 |
47 |
2 |
- |
NA |
+ |
NA |
IDC |
||
| IVS 3+2 delT |
32 |
2 |
56 |
1 |
- |
NA |
- |
2 |
IDC |
||
| IVS 4-1G>C |
39 |
2 |
48 |
1 |
NA |
NA |
NA |
NA |
IDC |
||
| IVS5-12 A>G |
33 |
1 |
33 |
1 |
- |
- |
- |
3 |
IDC |
||
|
|
|||||||||||
| BRCA2 |
490 delCT |
STOP 99 |
39 |
2 |
56 |
1 |
- |
- |
- |
2 |
IDC |
| 490 delCT |
STOP 99 |
51 |
4 |
45 |
3 |
+ |
+ |
- |
NA |
ILC |
|
| 1184 insA |
STOP 326 |
34 |
1 |
34 |
1 |
+ |
+ |
- |
2 |
IDC |
|
| 2001 del4 |
STOP 612 |
37 |
1 |
37 |
1 |
+ |
- |
+ |
3 |
IDC |
|
| 2699 del6 |
STOP 824 |
41 |
2 |
57 |
1 |
+ |
NA |
NA |
2 |
IDC |
|
| 2864 delCT |
STOP 879 |
40 |
1 |
40 |
1 |
- |
NA |
NA |
3 |
IDC |
|
| 4265 delCT |
STOP 1350 |
55 |
4 |
44 |
3 |
+ |
+ |
- |
2 |
IDC |
|
| 6195 insA |
STOP 2002 |
42 |
3 |
46 |
2 |
NA |
NA |
NA |
NA |
NA |
|
| 6553 delGT |
STOP 2109 |
59 |
3 |
49 |
1 |
+ |
NA |
- |
2 |
IDC |
|
| 6901 delA |
STOP 2228 |
35 |
1 |
35 |
1 |
NA |
NA |
NA |
NA |
IDC/DCIS |
|
| 6943 G>T |
E2239X |
47 |
2 |
44 |
2 |
NA |
NA |
NA |
NA |
NA |
|
| 9097 C>T |
Q2957X |
38 |
7 |
44 |
2 |
NA |
NA |
NA |
NA |
NA |
|
| 9326 insA |
STOP 3042 |
56 |
4 |
49 |
2 |
- |
- |
NA |
NA |
NA |
|
| IVS 17+1 G>A |
36 |
2 |
46 |
1 |
- |
- |
- |
3 |
IDC |
||
|
|
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|
ER, oestrogen receptor; PR, progesterone receptor; AA, amino acid; DCIS, ductal carcinoma in situ; IDC, invasive ductal carcinoma; ILC, invasive lobular carcinoma. |
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|
Thirthagiri et al. Breast Cancer Research 2008 10:R59 doi:10.1186/bcr2118 |
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