Insulin-like growth factor 1 receptor expression and IGF1R 3129G > T polymorphism are associated with response to neoadjuvant chemotherapy in breast cancer patients: results from the NEOZOTAC trial (BOOG 2010-01)

Table 1 Selected SNPs in IGF-1 pathway

RS number	Gene	Alleles (major > minor)	Position in gene and functionality	Clinical influence of polymorphism
rs10735380	IGF1	A > G	Transcription factor binding site, intronic	Variant G allele associated with increased serum IGF-1 level [20, 35, 41]
rs1520220	IGF1	C > G	Intronic	Variant G allele associated with increased serum IGF-1 level [35, 42] and BC risk [42].
rs6220	IGF1	A > G	3′-untranslated region, microRNA binding site	Variant G allele associated with increased serum IGF-1 level and increased BC risk [42]
rs2946834	IGF1	G > A	3′-untranslated region	Variant A allele associated with increased serum IGF-1 level [35, 42] and with worse outcome in BC [21]
rs2270628	IGFBP3	C > T	Downstream	Variant T allele associated with decreased serum IGF-BP3 level [20, 35, 36]
rs2854746	IGFBP3	G > C	Nonsynonymous in exon 1	Variant C allele associated with increased serum IGF-BP3 level [20, 35, 36, 43] and with better outcome in advanced gastric cancer treated with CT [44]
rs2854746	IGFBP3	G > C	(Ala32Gly)
rs4320932	IGF2	T > C	Transcription factor binding site, intronic	Variant C allele associated with worse outcome in ovarian cancer and worse response to CT [45]
rs2016347	IGF1R	G > T	3′-untranslated region, microRNA binding site	Variant T allele associated with better outcome in ER+ BC [22]

SNPs selected on basis of literature research and the clinical influence. rs reference SNP number, BC breast cancer, CT chemotherapy, ER estrogen receptor, IGF insulin-like growth factor, IGFBP3 insulin-like growth factor binding protein 3, IGF1R insulin-like growth factor 1 receptor, SNP single nucleotide polymorphism

ISSN: 1465-542X