Mutations in Exon 4 of ESR1 Gene in Iraqi Women with Breast Cancer

Abstract

This study was aimed to determine the mutations and single nucleotide polymorphisms (SNPs) in exon 4 in women with breast cancer from Iraq. Different samples (blood, fresh tissue with blood from same patient, and formalin fixed paraffin embedded, FFPE). Molecular analysis of exon 4 has been studied by using PCR. It was found that exon 4 appeared as a single band with size 370. Single nucleotide polymorphisms (SNPs) were determined in exon 4 ESR1 using DNA sequence. Then, nucleotide sequences of this exon were aligned with control group (healthy women) and with NCBI. It was detected five polymorphisms (AAA, TTT, AAA, CCG, AAA, and AAC) in exon 4 of ESR1; all of them were novel SNPs, all types of polymorphism in exon 4 of ESR1were substitution.

Keywords: SNPs in ESR1, ESR1 gene mutations, Breast cancer mutations