Table 3

Sequence variants of EGFR and PDGFRA gene in ASC patients.

Gene (exon)

Nucleotide Change

Aminoacid Substitution

N° of cases

dbSNP

EGFR (exon 20)

2361 G>A

Q787Q

17

rs1050171

PDGFRA (exon 12)

1701 G>A

P567P

9

rs1873778

PDGFRA (exon 14)

2002+3G>A

IVS14+3G>A

1

Not yet described

2002+49G>A

IVS14+49G>A

1

Not yet described

PDGFRA (exon 18)

2472 C>T

V824V

4

rs2228230

2449-50insA

IVS18-50insA

4

rs3830355

dbSNP: Single Nucleotide Polymorphism database http://www.ncbi.nlm.nih.gov/SNP/ webcite

Longatto-Filho et al. BMC Cancer 2009 9:212   doi:10.1186/1471-2407-9-212