Table 6.
Summary of studies investigating somatic changes linked to ESCC in African patients.
| Gene | Study (PMID) | Population | Findings |
|---|---|---|---|
| AR | Dietzsch et al., 2003 (12925954) | Black and mixed ancestry South African | LOH at CAG locus |
| CCND1 | Liu et al., 2016 (29148985) | Malawian | Enriched copy number gains |
| CDKN2A | Gamieldien et al., 1998 (9808520) | Black South African | Insertions Deletions Frameshift mutations |
| Liu et al., 2016 (29148985) | Malawian | Copy number losses | |
| COL1A2 | Dietzsch and Parker, 2002 (12435113) | Black South African | LOH (promoter and 1st intron) No evidence of MSI or allelic amplification |
| EFGR | Liu et al., 2016 (29148985) | Malawian | Copy number gains |
| EP300 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| FAT1 | Liu et al., 2016 (29148985) | Malawian | Nonsense mutations |
| FAT2 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| FAT3 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| FAT4 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| FBXW7 | Liu et al., 2016 (29148985) | Malawian | Frameshift mutations |
| JAG1 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| KMT2C (MLL3) | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| KMT2D (MLL2) | Liu et al., 2016 (29148985) | Malawian | Nonsense mutations |
| Mismatch repair genes | Naidoo et al., 2005 (15735161) | South African | LOH and MSI at: D2S123 (2p) D3S659 (3p13) D3S1255 (3p3p24.2-25) Bat 25 (4q12) Bat 26 (2p2p21-p16.3) Bat 40 (1p12-13.3) |
| MUC2 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| NFE2L2 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| NOTCH1 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| NOTCH3 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| PIK3CA | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| Ras genes | Victor et al., 1990 (2199031) | South African | No mutations found in codon 12, 13 or 61 |
| SERPINB4 | Liu et al., 2016 (29148985) | Malawian | Missense mutations |
| TP53 | Liu et al., 2016 (29148985) | Malawian | Missense and nonsense mutations |
| Gamieldien et al., 1998 (9808520) | Black South African | Exon 5–8 frameshift mutations: point mutations, deletions and insertions |
|
| Patel et al., 2011 (22040862) | Kenyan | Exon 5–8 mutations: missense, nonsense and deletions | |
| Vos et al., 2003 (12550754) | South African | 16-bp insertion in intron 3 | |
| Vos et al., 2003 (12550754) | South African | Exon 4 polymorphism in codons 34, 36 and 72 LOH (16-bp repeat locus) |
|
| TP63 | Liu et al., 2016 (29148985) | Malawian | Copy number gains |
LOH, loss of heterozygosity; MSI, microsatellite instability.