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.