Table 1.
Summary of findings from SNaPshot assay versions 1 and 2.
| Gene | Loci tested, amino acid–nucleotide | Mutations identified, n (%) |
| AKT1V2 | E17–49G | — |
| APC | R1114–3340C | — |
| Q1338–4012C | ||
| R1450–4348C | ||
| T1556fs-4666_4667insA | ||
| BRAF | 9 (100) | |
| V600–1798G | ||
| V600–1799T | V600E, 9 (100) | |
| CTNNB1 (β-catenin) | 11 (100)a | |
| D32–94G | ||
| D32–95A | D32A, 1 (9) | |
| S33–98C | S33Y, 2 (18) | |
| G34–101G | G34V, 1 (9) | |
| S37–109T | ||
| S37–110C | S37C, 2 and S37F, 3; total, 5 (45) | |
| T41–121A | T41A, 1 (9) | |
| T41–122C | T41I, 1 (9) | |
| S45–133T | ||
| S45–134C | ||
| EGFR | 73 (100) | |
| G719–2155G | G719C, 2 (3) | |
| T790–2369C | ||
| L858–2573T | L858R, 24 (33) | |
| Exon 19 deletionsb | 45 (62) | |
| Exon 20insert/delbV2 | 2 (3) | |
| ERBB2 (HER2)V2 | 2 (100) | |
| Exon 20 insertionsb | 2 (100) | |
| FLT3V1 | D835–2503G | — |
| IDH1V2 | 1 (100) | |
| R132–394C | R132C, 1 (100) | |
| R132–395G | ||
| JAK2V1 | V617–1849G | — |
| KIT | D816–2447A | — |
| KRAS | 134 (100) | |
| G12–34G | G12S, 5; G12R, 4; G12C, 58; total, 67 (50) | |
| G12–35G | G12V, 26; G12D, 19; G12A; 10; total, 57 (41) | |
| G13–37G | G13C, 6 (4) | |
| G13–38G | G13D, 6 (4) | |
| NOTCH1 | L1575–4724T | — |
| L1601–4802T | ||
| NRAS | 6 (100) | |
| G12–34G | G12S, 1 (17) | |
| G12–35G | ||
| G13–37G | ||
| G13–38G | ||
| Q61–181C | ||
| Q61–182A | Q61L, 3; Q61R, 2; total, 5 (83) | |
| Q61–183A | ||
| PIK3CA | 22 (100) | |
| R88–263G | ||
| E542–1624G | E542K, 6 (27) | |
| E545–1633G | E545K, 8 (36) | |
| Q546–1636C | Q546K, 1 (5) | |
| Q546–1637A | ||
| H1047–3139C | ||
| H1047–3140A | H1047R, 6; H1047L, 1; total, 7 (32) | |
| G1049–3145G | ||
| PTEN | R130–388C | — |
| R173–517C | ||
| R233–697C | ||
| K267fs–800delA | ||
| TP53 | 26 (100) | |
| R175–524G | R175H, 1; R175L, 3; total, 4 (15) | |
| G245–733G | G245C, 3 (12) | |
| R248–742C | R248W, 5 (19) | |
| R248–743G | R248Q, 2; R248L, 3; R248P, 1; total, 6 (23) | |
| R273–817C | R273C, 3; R273S, 2; total, 5, (19) | |
| R273–818G | R273L, 2 (8) | |
| R306–916C | R306X, 1 (4) |
Tested loci are listed and differences between versions 1 and 2 are indicated. V1—this assay was included in SNaPshot version 1 only V2—this assay was included in SNaPshot version 2 only. The number and frequency of observed genotype alterations are listed (percent refers to the frequency of a particular mutation among all mutations identified for that gene).
a
One patient was found to have two separate β-catenin mutations, one at locus S33–98C (S33Y) and one at S37–110C (S37F).
b
Sizing assays were used to identify these mutations.