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

V600K 1798_1799GT>AA

V600M


1798G>A


EGFR

G719S 2155G>A
G719A 2156G>C
G719C 2155G>T
S768I 2303G>T
E746_A750 2235_2249del15
E746_A750 2236_2250del15
E746_S752>V 2237_2255>T
L747_T751 2240_2254del15
L747_P753>S 2240_2257del18
T790M 2396C>T
L858R 2573T>G
L861Q 2582T>A
E746_T751>A 2237_2251del
L747_E749 2239_2247del
L747_A750>P 2239_2249>C
L747_T751>P 2239_2251>C
L747_T751 2239_2253del

L747_S752


2239_2256del



 ERBB2 *M774_A775insAYVM 2322_2323ins12
A775_G776insYVMA 2324_2325ins12
A775_G776insYVMA 2325_2326ins12
G776>VC 2326_2327insTTT

G776>VC


2326_2327insTGT


KRAS G12S 34G>A
G12C 34G>T
G12R 34G>C
G12V 35G>T
G12D 35G>A
G12A 35G>C
G13C 37G>T
G13S 37G>A
G13R 37G>C
G13D 38G>A
Q61K 181C>A
Q61L 182A>T
Q61H 183A>T



MAP2 K1

Q61R


K57N

182A>G


171G>


NRAS



G12C



34G>T

G12S 34G>A
G12R 34G>C
G12V 35G>T
G12D 35G>A
G12A 35G>C
G13R 37G>C
G13V 38G>T
G13D 38G>A
G13A 38G>C
G13C 37G>T
Q61K 181C>A
Q61R 182A>G
Q61P 182A>C
Q61L 182A>T
Q61H 183A>T
Q61H 183A>C


PIK3CA


R88Q


263G>A

E542K 1624G>A
E545K 1633G>A
E545G 1634A>G
E545A 1634A>C
Q546K 1636C>A
Q546R 1637A>G
H1047Y 3139C>T
H1047R 3140A>G
H1047L 3140A>T
G1049S 3145G>A
G1049R 3145G>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.