Table 1.
Clinical features and select pathogenic genomic alteration frequencies in 8728 UCB specimens.
| EAS | Non-EAS | P value† | SAS | Non-SAS | P value† | EAS | EUR | P value† | SAS | EUR | P value† | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n | 205 | 8523 | — | 74 | 8654 | — | 205 | 7447 | — | 74 | 7447 | — |
| Sex (% male) | 0.7122 | 0.7490 | NS | 0.7568 | 0.7481 | NS | 0.7122 | 0.7602 | NS | 0.7568 | 0.7602 | NS |
| Median age (range) | 72 (29-89+) | 70 (16-89+) | — | 72 (19-89+) | 70 16-89+) | — | 72 (29-89+) | 70 (16-89+) | — | 72 (19-89+) | 70 (16-89+) | — |
| Mean age | 70.4657 | 69.3063 | NS | 69.4054 | 69.3328 | NS | 70.4657 | 69.6562 | NS | 69.4054 | 69.6562 | NS |
| GA/tumor | 8.0293 | 8.1165 | NS | 8.6622 | 8.1098 | NS | 8.0293 | 8.1151 | NS | 8.6622 | 8.1151 | NS |
| Genomic ancestry | ||||||||||||
| n | 205 | 8523 | — | 74 | 8654 | — | 205 | 7447 | — | 74 | 7447 | — |
| AFR | 0 | 0.0635 | 2.53E-05 | 0 | 0.0625 | NS | 0 | 0 | NS | 0 | 0 | NS |
| AMR | 0 | 0.0541 | 1.66E-04 | 0 | 0.0533 | NS | 0 | 0 | NS | 0 | 0 | NS |
| EAS | 1 | 0 | 0 | 0 | 0.0237 | NS | 1 | 0 | 0 | 0 | 0 | NS |
| EUR | 0 | 0.8738 | 9.47E-177 | 0 | 0.8605 | 6.30E-62 | 0 | 1 | 0 | 0 | 1 | 1.26E-178 |
| SAS | 0 | 0.0087 | NS | 1 | 0 | 3.93E-183 | 0 | 0 | NS | 1 | 0 | 1.26E-178 |
| Select pathogenic genomic alterations | ||||||||||||
| ARID1A | 0.1902 | 0.2477 | NS | 0.2838 | 0.2460 | NS | 0.1902 | 0.2558 | NS | 0.2838 | 0.2558 | NS |
| BRCA1 | 0.0293 | 0.0201 | NS | 0.0405 | 0.0201 | NS | 0.0293 | 0.0195 | NS | 0.0405 | 0.0195 | NS |
| BRCA2 | 0.0244 | 0.0307 | NS | 0.0270 | 0.0306 | NS | 0.0244 | 0.0308 | NS | 0.0270 | 0.0308 | NS |
| CD274 | 0.0000 | 0.0095 | NS | 0.0000 | 0.0094 | NS | 0.0000 | 0.0089 | NS | 0.0000 | 0.0089 | NS |
| CDKN2A | 0.4146 | 0.3697 | NS | 0.3378 | 0.3710 | NS | 0.4146 | 0.3666 | NS | 0.3378 | 0.3666 | NS |
| CDKN2B | 0.3463 | 0.2944 | NS | 0.2703 | 0.2958 | NS | 0.3463 | 0.2917 | NS | 0.2703 | 0.2917 | NS |
| ERBB2 | 0.1756 | 0.1678 | NS | 0.1216 | 0.1684 | NS | 0.1756 | 0.1685 | NS | 0.1216 | 0.1685 | NS |
| FGFR3 | 0.1659 | 0.1843 | NS | 0.0946 | 0.1847 | NS | 0.1659 | 0.1837 | NS | 0.0946 | 0.1837 | NS |
| MDM2 | 0.0829 | 0.0922 | NS | 0.0946 | 0.0920 | NS | 0.0829 | 0.0923 | NS | 0.0946 | 0.0923 | NS |
| MTAP | 0.2195 | 0.1835 | NS | 0.1622 | 0.1845 | NS | 0.2195 | 0.1805 | NS | 0.1622 | 0.1805 | NS |
| PIK3CA | 0.1268 | 0.2212 | 5.04E-03 | 0.1757 | 0.2193 | NS | 0.1268 | 0.2209 | 7.46E-03 | 0.1757 | 0.2209 | NS |
| PTEN | 0.0439 | 0.0456 | NS | 0.0135 | 0.0459 | NS | 0.0439 | 0.0457 | NS | 0.0135 | 0.0457 | NS |
| RB1 | 0.1756 | 0.2127 | NS | 0.1892 | 0.2120 | NS | 0.1756 | 0.2130 | NS | 0.1892 | 0.2130 | NS |
| TERT | 0.5415 | 0.7292 | 2.31E-07 | 0.5811 | 0.7260 | NS | 0.5415 | 0.7360 | 6.34E-08 | 0.5811 | 0.7360 | NS |
| TP53 | 0.5902 | 0.5980 | NS | 0.6757 | 0.5972 | NS | 0.5902 | 0.5978 | NS | 0.6757 | 0.5978 | NS |
| TSC1 | 0.0976 | 0.0874 | NS | 0.0676 | 0.0878 | NS | 0.0976 | 0.0927 | NS | 0.0676 | 0.0927 | NS |
| Microsatellite instability (MSI) | ||||||||||||
| n | 198 | 8231 | — | 71 | 8358 | — | 198 | 7175 | — | 71 | 7175 | — |
| MSI-high | 0.0152 | 0.0085 | NS | 0.0000 | 0.0087 | NS | 0.0152 | 0.0088 | NS | 0.0000 | 0.0088 | NS |
| Tumor mutational burden (TMB) | ||||||||||||
| n | 205 | 8523 | — | 74 | 8654 | — | 205 | 7447 | — | 74 | 7447 | — |
| TMB≥10 | 0.3073 | 0.3453 | NS | 0.3919 | 0.3440 | NS | 0.3073 | 0.3489 | NS | 0.3919 | 0.3489 | NS |
| TMB≥20 | 0.0732 | 0.1235 | NS | 0.1216 | 0.1224 | NS | 0.0732 | 0.1258 | NS | 0.1216 | 0.1258 | NS |
| Mutational signatures | ||||||||||||
| n | 95 | 3828 | — | 41 | 3882 | — | 95 | 3368 | — | 41 | 3368 | — |
| Alkylating | 0.0105 | 0.0010 | NS | 0.0000 | 0.0013 | NS | 0.0105 | 0.0012 | NS | 0.0000 | 0.0012 | NS |
| APOBEC | 0.6316 | 0.7194 | NS | 0.6829 | 0.7177 | NS | 0.6316 | 0.7301 | NS | 0.6829 | 0.7301 | NS |
| MMR | 0.0737 | 0.0387 | NS | 0.0244 | 0.0397 | NS | 0.0737 | 0.0377 | NS | 0.0244 | 0.0377 | NS |
| POLE | 0.0000 | 0.0010 | NS | 0.0000 | 0.0010 | NS | 0.0000 | 0.0009 | NS | 0.0000 | 0.0009 | NS |
| Tobacco | 0.0000 | 0.0052 | NS | 0.0000 | 0.0052 | NS | 0.0000 | 0.0045 | NS | 0.0000 | 0.0045 | NS |
| UV | 0.0000 | 0.0146 | NS | 0.0000 | 0.0144 | NS | 0.0000 | 0.0157 | NS | 0.0000 | 0.0157 | NS |
| PD-L1 IHC | ||||||||||||
| n | 3 | 200 | — | 2 | 201 | — | 3 | 166 | — | 2 | 166 | — |
| PD-L1 neg | 0.3333 | 0.6050 | NS | 0.5000 | 0.6020 | NS | 0.3333 | 0.6084 | NS | 0.5000 | 0.6084 | NS |
| PD-L1 low | 0.0000 | 0.2300 | NS | 0.5000 | 0.2239 | NS | 0.0000 | 0.2229 | NS | 0.5000 | 0.2229 | NS |
| PD-L1 high | 0.6667 | 0.1650 | NS | 0.0000 | 0.1741 | NS | 0.6667 | 0.1687 | NS | 0.0000 | 0.1687 | NS |
Comparisons between EAS vs. non-EAS, SAS vs. non-EAS, EAS vs. EUR, and SAS vs. EUR are shown.
†False discovery rate (FDR) corrected using the Benjamini-Hochberg procedure.
Abbreviation: NS, not significant; SAS, South Asian; EAS, East Asian; GA, genomic alteration; EUR, European genomic ancestry; AFR, African genomic ancestry; AMR, Admixed-American genomic ancestry.