Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis

BMC Cancer

Table 2 Regions of interest assayed and primer sequences used. The commonly reported mutations in the exons of interest were taken from individual gene reports on COSMIC database [13]

Gene	Exon	Forward primer	Reverse primer	Previously reported mutations	Implicated in
BRAF	11	CTGTTTGGCTTGACTTGAC	CATATCCTATTATGACTTG	Minor mutation hotspots at codons 466 and 469	Driver mutation, cutaneous melanoma
BRAF	15	CTGATAGGAAAATGAGAT	CAGCAGCATCTCAGGGCC	p.V600E	Driver mutation, cutaneous melanoma
NRAS	2	GTGGCTCGCCAATTAAC	CCGACAAGTGAGAGAC	Mutation hotspots at codons 12 and 13	Driver mutation, cutaneous melanoma
NRAS	3	GCATTGCATTCCCTGTGG	GAACACAAAGATCATCC	p.Q61R, p.Q61L	Driver mutation, cutaneous melanoma
KRAS	2	GATAGTGTATTAACC	AACCTTTATCTGTATC	Mutation hotspots at codons 12 and 13	Driver mutation,cutaneous melanoma
KRAS	3	GTGCACTGTAATAATCT	AATTACTCCTTAATGTC	p.Q61R, p.Q61H	Driver mutation,cutaneous melanoma
GNAQ	4	CTTTCCGTAGACAGCTTTG	GTACTCAAGGCATAAAAG	p. R183Q	Driver mutation, uveal melanoma
GNAQ	5	GCTATATTTATGTTGAC	CTATCATTTACTTGTATC	p.Q209L, p.Q209R, p.Q209P	Driver mutation, uveal melanoma
GNA11	4	GCAGCCGGCCTGAGCA	ACACACACTGAGGATG	p. R183C	Driver mutation, uveal melanoma
GNA11	5	GCCAGGTGGCTGAGT	GCAGGGCCTTACTGG	p.Q209L, p.Q209P	Driver mutation, uveal melanoma
SF3B1	14	GGCCGAGAGATCATTTCTAAT	AAGAAGGGCAATAAAGAAGGA	Mutation hotspot at codon 625, and multiple other hotspots	Prognosticating mutation in uveal melanoma, possible driver mutation
EIF1AX	1	GCCACGCCTGCGTCATAAAG	CGAGCTCAGAGTCGCGTGTG	Mutation hotspots at codons 2,3,4,6	Prognosticating mutation in uveal melanoma, possible driver mutation
EIF1AX	2	AAAGGAAATTCCAAGAAGGGTAGGG	TAATCGTGCCACCACACTTCACC	Mutation hotspots at codons 13, 15

ISSN: 1471-2407