Table 1.
Differences in clinicopathological characteristics and driver gene mutations in selected cancer types
| Cancer type | African American | Caucasian | Asian | Clinical implication | References |
|---|---|---|---|---|---|
| Lung cancer | |||||
| KRAS mutation | 17% | 26–31.6% | 10.4–11% | Mutation significantly more frequent in smokers. | [32, 101] |
| EGFR mutation | 3–19% | 3–20% | 32–57% | Mutation significantly more frequent in women and non-smokers. Predicts response to EGFR tyrosine kinase inhibitors. |
[32, 101–105] |
| ALK rearrangement (EML4-ALK fusion) | 4% | 5.6% | 4.9–67% | Associated with younger age, never smoking, advanced clinical stage. Predicts response to ALK inhibitors. |
[32, 105–108] |
| MET mutation | 0–1% | 2.2–19% | 13–14.3% | More frequent in males, smokers. | [101, 102, 109] |
| Melanoma | |||||
| BRAF mutation | 8% | 21% | 24–25.5% | BRAF or NRAS mutation mutually exclusive, more frequently associated with ulceration and poor survival. | [34, 110–112] |
| N RAS mutation | 12% | 22% | 7.2% | [34, 112] | |
| GNAQ mutation GNA11 mutation |
45–49% 32% |
18% 20% |
Present at all stages of uveal melanoma GNAQ and GNA11 mutations are mutually exclusive. |
[110, 113, 114] | |
| Prostate cancer | |||||
| Anterior localization | 49.2% | 20% | Associated with lower androgen receptor signaling. | [115] | |
| ERG rearrangement TMPRSS-ERG fusion | 27.6–31.3% | 37.4–50% | 7.5–15.9% | No correlation with clinicopathological features besides race | [35–37] |
| PTEN deletion | 6.9% | 19.8–42.3% | 14.3% | Associated with higher Gleason score, androgen independence and worse prognosis. May predict response to PI3K inhibitor. |
[36, 37] |
| SPINK1 overexpression | 23.8% | 8.2% | SPINK1 overexpression and ERG rearrangements mutually exclusive. Associated with aggressive disease. | [36] | |
| Breast cancer | |||||
| Triple negative tumors | 19.5–48.1% | 9.2–14.5% | 9% | Associated with poor survival. | [40, 41, 116] |
| Basal like tumors -Premenopausal -Postmenopausal |
39% 14% |
16% 16% |
Significantly more TP53 mutations in basal like vs luminal A tumors (44 vs 15%). | [117] | |
| Luminal A tumors -Premenopausal -Postmenopausal |
36% 59% |
51% 58% |
[117] | ||
| Luminal B tumors -Premenopausal -Postmenopausal |
9% 16% |
18% 16% |
[117] | ||
| HER2 expression | 7–19.5% | 6–13% | 8.5–20% | No differences between pre-and postmenopausal status. Predicts response to anti- HER2 antibodies. |
[40, 41, 116–120] |
| BRCA1 mutation All ages <35 years |
1.3% 16.7% |
2.2% 7.2% |
0.5% 2.4% |
8.3 % in Ashkenazi Jewish breast cancer patients of all ages, 66.7% in patients <35 years. Associated with poor survival. |
[121, 122] |
| TP53 mutation | 42.9% | 27 6% | TP53 mutations associated with poorer survival for African Americans but not for Caucasians. | [123, 124] | |
| PIK3CA mutation | 20% | 33.9% | May predict response to PI3K inhibitors. | [123] | |
| Colorectal cancer | |||||
| Proximal localization Cancer stage III, IV Lymphocytic infiltration |
49% 52% 29% |
34% 37% 12% |
Proximal (right-sided) tumors associated with worse outcome. | [125, 126] | |
| KRAS mutation | 23–44.1% | 15–34.9% | 27.8–37.9% | Associated with poor prognosis. Predicts lack of response to EGFR-antibodies. |
[125,127–129] |
| BRAF mutation | 4–6.4% | 7–13.9% | 4.5–6% | Associated with poor prognosis. | [111, 125, 127, 128] |
| Microsatellite instability (MSI) | 9% | 9% | 9% | MSI associated with favorable outcome. Negative predictor marker for 5-FU based therapy in stage II and III patients. |
[125, 128–131] |
| Gastric cancer | |||||
| HER2 expression | 23.6% | 23.9% | FIER2 expression higher in intestinal vs diffuse-type (31.8 vs 6.1 %), and gastroesophageal junction cancer vs gastric tumors (32.2 vs 21.4%). Predicts response to anti-FlER2 antibodies |
[120, 132] | |
| GIST | |||||
| c-KIT mutation | 78–79% -exon 11: 67–83% -exon 9: 11–14% | 90.7% -exon 11: 74% -exon 9: 7.3% | Exon 11 mutations predict better outcome after imatinib treatment. | [133–136] | |
| PDGFRA mutation | 6–12%- exon 18: 9% | 16%- exon 18: 8% | KIT and PDGFRA mutations mutually exclusive. | [133, 136] | |
| HNSCC | |||||
| HPV infection | 4–25% | 34–71.1% | 51.3% | Associated with better outcome. | [137–139] |
| Papillary Thyroid cancer | |||||
| BRAF mutation | 48% | 75.4–80% | Associated with aggressive clinicopathological features. | [111, 140–142] | |
| TERT promoter mutation | 4.7–25.5% | 4.4–11.3% | Associated with poor prognosis. | [142, 143] | |
| Glioblastoma | |||||
| IDH1 and 2 mutation | 10% | 16,1% | Associated with better outcome | [144, 145] | |
| TERT promoter mutation | 73.3% | TERT promoter mutation alone associated with poor prognosis, occurring together with IDH1 mutation associated with prolonged survival. | [144] | ||
| MGMT promoter méthylation | 36% | Associated with better survival. | [146] | ||