Mutation in BRCA 1
|
Frequency of recurrent mutation (%)
|
---|
Exon
|
Mutation
|
Country
|
Hereditary
|
Early-onset BC
|
Unselected BC
|
Hereditary BC
|
Early-onset BC
|
Unselected BC
|
---|
2
|
c.68_69delAG
|
Argentina
|
✔
| | | | | |
Brazil
|
✔
| | |
0.33%
| | |
Chile
|
✔
| | |
0.6%
| | |
Mexico
| | |
✔
| | | |
Peru
| | |
✔
| | |
2.6%
|
5
|
c.181T>G
|
Argentina
|
✔
| | |
0.64%
| | |
Brazil
| |
✔
| | | | |
Chile
|
✔
| | | | | |
5
|
c.211A>G
|
Argentina
|
✔
| | |
1.17%
| | |
Brazil
|
✔
| | | | | |
Mexico
|
✔
| |
✔
| | | |
Peru
| | |
✔
| | | |
11
|
c. 798_799delTT
|
Argentina
|
✔
| | | | | |
Mexico
| | |
✔
| | | |
11
|
c.815_824dupAGCCATGTGG
|
Mexico
| | |
✔
| | | |
Peru
| | |
✔
| | | |
11
|
c.2568T>G
|
Argentina
|
✔
| | | | | |
Uruguay
|
✔
| | | | | |
11
|
c.3228_3229delAG
|
Argentina
|
✔
| | | | | |
Brazil
| | |
✔
| | | |
11
|
c. 3331_3334delCAAG
|
Brazil
|
✔
| | | | | |
Chile
|
✔
| | |
0.9%
| | |
Colombia
|
✔
| |
✔
|
9.4%
| |
1.6%/11.4%a
|
11
|
c. 3858_3861delTGAG
|
Mexico
|
✔
| |
✔
| | | |
Peru
| | |
✔
| | | |
11
|
c. 3858_3861delTGAG
|
Chile
|
✔
| | | | | |
Mexico
| | |
✔
| | | |
11
|
c. 4065_4068delTCAA
|
Mexico
| | |
✔
| | | |
Peru
| | |
✔
| | | |
13
|
c.4327>T
|
Argentina
|
✔
| | | | | |
Mexico
| |
✔
|
✔
| | |
0.25%
|
18
|
c. 5123C>A
|
Argentina
|
✔
| | | | | |
Brazil
|
✔
| | | | | |
Colombia
|
✔
| |
✔
|
5.7%
| |
1.3%
|
Mexico
|
✔
|
✔
|
✔
| | |
0.5%
|
20
|
c.5266up C
|
Argentina
|
✔
| | | | | |
Brazil
|
✔
|
✔
|
✔
|
2.5%/0.65%/5%a
|
3.7%
|
1.2%
|
Mutation in BRCA 2
|
3
|
c.145G>T
|
Argentina
|
✔
| | | | | |
Chile
|
✔
| | |
3.7%
| | |
Mexico
|
✔
| | | | | |
11
|
c.2808_2811 delACAA
|
Argentina
|
✔
| | |
0.64%
| | |
Brazil
|
✔
|
✔
| | | | |
Colombia
|
✔
| |
✔
|
3.8%
| |
1.3%
|
Mexico
|
✔
| |
✔
| | | |
Peru
| | |
✔
| | |
0.75%
|
Venezuela
|
✔
| | | | | |
11
|
c.3264d up T
|
Argentina
|
✔
| | | | | |
Mexico
|
✔
| | | | | |
11
|
c.4740_4741insTG
|
Argentina
|
✔
| | | | | |
Chile
|
✔
| | |
0.6%
| | |
11
|
c.5351dup A
|
Argentina
|
✔
| | | | | |
Uruguay
|
✔
| | | | | |
11
|
c. 5946delT
|
Argentina
|
✔
| | | | | |
Brazil
| | |
✔
| | | |
Chile
|
✔
| | | | | |
Costa Rica
|
✔
| | | | | |
11
|
c.6024dup G
|
Argentina
|
✔
| | | | | |
Colombia
| | |
✔
| | | |
Mexico
| | |
✔
| | | |
-
BC breast cancer
- ✔ = Mutation present
-
aValues obtained in different publication