Table 2.
Summary of common cancer-associated somatic genetic variants detected in skin specimens using NGS.
| Gene | 592-gene NGS panel #1, 22 June 2016 | 592-gene NGS panel #2, 16 October 2018 | ||||||
|---|---|---|---|---|---|---|---|---|
| Detected variants |
Functional classification | VAF, % | Detected variants |
Functional classification | VAF, % | |||
| Protein alteration | Nucleotide change | Protein alteration | Nucleotide change | |||||
| ALK | P40H | NA | VUS | 25 | — | — | — | — |
| BRCA2 | H3154fs | c.9460delC | Pathogenic | 74 | — | — | — | — |
| BRCA2 | — | — | — | — | E3152del | c.9455_9457delAGG | Probable reversion | 35 |
| ESR1 | Y537S | NA | Pathogenic | 36 | Y537S | c.1610 _1611delinsCC | Pathogenic | 22 |
| NOTCH1 | R176Q | NA | VUS | 16 | — | — | — | |
| RB1 | G840R | NA | VUS | 14 | — | — | — | |
| WT1 | E154* | NA | Pathogenic | 36 | — | — | — | — |
| WT1 | E153D | NA | VUS | 37 | — | — | — | — |
| WT1 | — | — | — | — | E153 _E154 delinsD* | c.459_460delinsCT | Pathogenic | 27 |
A total of 592 genes was tested using NGS. Alterations prefaced by: p., protein; c., complementary DNA.
ALK, anaplastic lymphoma receptor kinase gene; BRCA2, breast cancer type 2 susceptibility gene; ESR1, oestrogen receptor alpha gene; NA, not available; NGS, next-generation sequencing; NOTCH1, notch homologue 1, translocation-associated gene; RB1, retinoblastoma-1 gene; VAF, variant allele frequency; VUS, variant of uncertain significance; WT1, Wilms tumour 1.