Lack of epidermal growth factor receptor (EGFR)-activating mutations in triple-negative breast cancer in China

Breast Cancer Research

Table 1 Polymorphisms in exons 18, 19, 20, and 21 of EGFR in 50 triple-negative breast cancers

Exon	Position	Amino acid change	Minor allele frequency (number)	dbSNP	NNSplice		Human Splicing Finder
Exon	Position	Amino acid change	Minor allele frequency (number)	dbSNP	Score ratio of donor site (SNP versus normal)	Score ratio of acceptor site (SNP versus normal)	Human Splicing Finder
Intron 19	c.2283 + 103C > T	-	0.1 (10)	rs17290371	0.48:0.53	-	Creation of an intronic ESE site
20	c.2361G > A	Q787Q	0.18 (9)	rs1050171	0:0.43	-	Probably no impact on splicing
20	c.2457G > A	V819V	0.04 (1)	rs56183713	0.53:0	0.89:0.65	1. Creation of an exonic ESS site
20	c.2457G > A	V819V	0.04 (1)	rs56183713	0.53:0	0.89:0.65	2. Alteration of an exonic ESE site
Intron 20	c.2470-68C > A	-	0.02 (1)	rs530416576	-	-	Creation of an intronic ESE site

EGFR epidermal growth factor receptor, SNP single-nucleotide polymorphism, ESE exonic splicing enhancer, ESS exonic splicing silencer

ISSN: 1465-542X