Four-locus (rs1800472-rs1800471-rs1800470-rs1800469) Haploview analysis identified haplotype <u>T</u>G<u>CT</u> to be negatively associated, and haplotypes CGT<u>T</u> and C<u>CC</u>C to be positively associated with BC.
The present study investigated the effects of the TGFB1 promoter region (rs1800468 or G-800A and rs1800469 or C-509T) and signal peptide (rs1800470 or C29T and rs1800471 or G74C) single nucleotide polymorphisms (SNPs) and their haplotype structures on the susceptibility and clinicopathological presentation of BC subtypes.
c.29C>T and c.74G>C polymorphisms in the TGF-β1 gene significantly affect breast cancer risk, which correlates with elevated TGF-β1 level in the patients.