Mutations Tested

The current panel of mutations being tested for includes the following:

Gene

AKT


Protein Mutation

E17K


DNA Mutation

49G>A

BRAF


G469A

V600E


1406G>C

1799T>A

V600K1798_1799GT>AA

V600M


1798G>A


EGFR

G719S2155G>A
G719A2156G>C
G719C2155G>T
S768I2303G>T
E746_A7502235_2249del15
E746_A7502236_2250del15
E746_S752>V2237_2255>T
L747_T7512240_2254del15
L747_P753>S2240_2257del18
T790M2396C>T
L858R2573T>G
L861Q2582T>A
E746_T751>A2237_2251del
L747_E7492239_2247del
L747_A750>P2239_2249>C
L747_T751>P2239_2251>C
L747_T7512239_2253del

L747_S752


2239_2256del



ERBB2*M774_A775insAYVM2322_2323ins12
A775_G776insYVMA2324_2325ins12
A775_G776insYVMA2325_2326ins12
G776>VC2326_2327insTTT

G776>VC


2326_2327insTGT


KRASG12S34G>A
G12C34G>T
G12R34G>C
G12V35G>T
G12D35G>A
G12A35G>C
G13C37G>T
G13S37G>A
G13R37G>C
G13D38G>A
Q61K181C>A
Q61L182A>T
Q61H183A>T



MAP2K1

Q61R


K57N

182A>G


171G>


NRAS



G12C



34G>T

G12S34G>A
G12R34G>C
G12V35G>T
G12D35G>A
G12A35G>C
G13R37G>C
G13V38G>T
G13D38G>A
G13A38G>C
G13C37G>T
Q61K181C>A
Q61R182A>G
Q61P182A>C
Q61L182A>T
Q61H183A>T
Q61H183A>C


PIK3CA


R88Q


263G>A

E542K1624G>A
E545K1633G>A
E545G1634A>G
E545A1634A>C
Q546K1636C>A
Q546R1637A>G
H1047Y3139C>T
H1047R3140A>G
H1047L3140A>T
G1049S3145G>A
G1049R3145G>C


*Assay for this mutation has not yet been validated for clinical use.

Mutations in the above panel are described at the protein level using the single-letter amino acid code.  X indicates the absence of an amino acid (i.e., a nonsense mutation, caused by creation of a stop codon in the DNA), and “fs” indicates a frameshift mutation.  Mutations are described at the DNA level using the numbering of the coding sequence of the gene (rather than the genomic sequence).  Standard mutation nomenclature is used, following the guidelines of the Human Genome Variation Society.

Additional mutations will be added to the panel as these mutations are correlated with differences in responses to therapy.