| Author |
AKT1 E17K # Mutations/ Cases tested |
% |
Methods |
Clinicopathologic correlation |
| Carpten 2007 [36] |
5/61 |
8.2% |
Complete sequencing |
4/5 mutants ER+ |
| Bleeker 2008 [67] |
16/273 |
5.8% |
Sequence hotspot |
No clinical/hormonal data |
| Kim 2008 [106] |
4/78 |
5.1% |
SSCP |
No clinical/hormonal data DCIS: 0/15 |
| Stemke-Hale 2008 [56] |
6/418 |
1.4% |
PCR-mass-spec |
All mutants ER+ |
| Kalinsky 2009 [71] |
21/590 |
3.6% |
PCR-mass-spec |
Mostly ER+ |
| Kadota 2009 [10] |
11/161 |
6.8% |
|
|
| Lauring 2010 [34] |
3/100 |
3% |
Sequence hotspot (frozen tissue) |
All mutants ER+ |
| Dunlap 2010 [79] |
3/78 |
3.8% |
Sequence hotspot |
All mutants ER+ |
| Kan 2010 [50] |
4/183 |
2.2% |
Mismatch Repair Detection (frozen tissue) |
|
| Boyault 2011 [103] |
5/120 |
4.2% |
Sequence hotspot (frozen tissue) |
4 of 5 ER+PR+ |
| Total |
78/2062 |
3.8% |
|
|
COSMIC database (Catalog of Somatic Mutations in Cancer; http://www.sanger.ac.uk/genetics/CGP/cosmic/) lists 57 mutations in 1618 tested breast carcinomas as of
10/30/11 (overall 3.5% mutation), including all of the above except Lauring 2010, Kalinsky 2009, Boyault 2011.
SSCP-Single strand conformation polymorphism
ER-Estrogen receptor, PR-Progesterone receptor |
