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. Author manuscript; available in PMC: 2011 Jul 24.
Published in final edited form as: Nat Rev Drug Discov. 2009 Aug;8(8):627–644. doi: 10.1038/nrd2926

Table 1. Incidence of genetic alterations in the PI3K pathway in cancer.

Genetic alterations Cancer type Incidence of tumors with alterations References
p110a (PIK3CA)
Mutations Breast 27% (468/1766) *
Endometrial 24% (102/429) *
Colon 15% (448/3024) *
upper digestive tract 11% (38/352) *
gastric 8% (29/362) *
Pancreas 8% (8/104) *
Ovarian 8% (61/787) *
Liver 6% (19/303) *
brain 5.9% (59/996) *, 29, 30
Esophageal 5% (13/239) *
Lung 3% (28/962) *
melanoma 9% (24/278) *
urinary tract 17% (28/162) *
prostate 2% (1/57) *
thyroid 2% (7/394) *
Amplifications Lung
 SQC 53%(40/75) 147-149
 ADC 12.5% (15/120) 147-149
 SCC 21.4% (3/14) 147-149
 NSC 12.0% (11/92) 150
Cervical 69% (11/16) 151
Breast 8.7% (8/92) 152, 153
Head and neck 32.2% (52/161) 146, 153, 154
Gastric 36% (20/55) 155
Thyroid 9% (12/128) 156
Esophageal 6% (5/87) 157
Cervical 9% (2/22) 158
Endometrial 10% (3/29) 158
Ovarian 11.9% (16/134) 159, 161
Glioblastoma 6.1%(21/344) 29, 160

p110b (PIK3CB)
Amplifications Ovarian 5% 57
Breast 5% 57
Increase in activity and expression Colon 70% (7/10) 56
Bladder 89% (8/9) 56

PDK1
Amplification and overexpression Breast 20% 57

AKT
AKT1 mutation (E17K) Breast 3.7% (31/845) 44, 58, 139, 140
Colon 2.8%(4/139) 58, 139
Ovarian 2% (1/50) 58
Lung 1.9% (2/105) 141
AKT1 amplifications Gastric 20% (1/5) 145
AKT2 amplifications Ovarian 14.1%(30/213) 142, 144, 151, 159
Pancreas 20% (7/35) 143
Head and neck 30% (12/40) 146
Breast 3% (3/106) 142
AKT3 mutation (E17K) Skin 1.5% (2/137) 59
AKT3 amplifications Glioblastoma 2% (4/205) 29

p85a (PIK3R1)
Mutations Glioblastoma 9.9% (9/91); 8% (8/105) 29, 30
Ovarian 4% (3/80); 58
Colon 2% (1/60); 58

PTEN
Loss of heterozygosity Gastric 25.3% (84/332) 155, 162, 163
Breast 24.9%(99/398) 164-167
Melanoma 37%(53/143) 168-171
Prostate 30%(70/230) 172-176
Glioblastoma 28% (113/404) 29, 30, 177-179
Mutations Endometrial 38% (604/1569) *
brain 21%(611/2913) *, 29, 30
skin 17% (96/555) *
Prostate 14% (51/371) *
large intestine 13% (53/416) *
Ovary 9% (55/645) *
Breast 6% (34/561) *
Haematopoietic & lymphoid tissue 6% (54/866) *
stomach 6% (28/499) *
Liver 5% (20/372) *
kidney 5% (14/294) *
vulva 65% (17/26) *
urinary tract 9% (13/142) *
thyroid 5% (27/591) *
Lung 9% (48/548) *
*

The values are taken from http://www.sanger.ac.uk/genetics/CGP/cosmic/.