Estrogen receptor alpha gene polymorphism and breast cancer.
Estrogen and estrogen receptors play important roles in the proliferation and development of breast cancer. Several genetic alterations identified in the estrogen receptor alpha gene (ESR1) are thought to influence the expression or function of this protein, and many have been evaluated for their role in breast cancer predisposition. The aim of this study was to evaluate the role of the C325G single nucleotide polymorphism (SNP) in the ESR1 in predisposition to breast cancer. The candidate SNP C325G in ESR1, exon 4 was genotyped in breast cancer patients and in healthy controls that were age and sex matched. Genotyping was performed using both single-stranded conformational polymorphism (SSCP) and a higher throughput allelic discrimination method using real-time PCR. Data on clinical features and demographic details were collected. Significant association of breast cancer risk was shown in the subgroup of women 50 years and younger who had the C allele (OR: 2.28, 95% CI: 1.10-4.72) (P= 0.03). However, the overall susceptibility to breast cancer was not significant, although all estimates were in the direction of a higher risk in women with CC genotypes. This study found significant evidence that polymorphism within the low penetrance ESR1 is associated with breast cancer susceptibility in women of 50 years or younger. There is also an indication that G allele is protective (compared to C allele).
Faculty of Medical Laboratory Technology, Sudan University for Science and Technology, Khartoum, Sudan.
Awatif
A
Siddig
Abdelrahim Osman
AO
Mohamed
Salma
S
Awad
Ahmed H
AH
Hassan
Erika
E
Zilahi
Mohammed
M
Al-Haj
Roos
R
Bernsen
Abdu
A
Adem
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D017931:DNA Primers; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational
D017931:DNA Primers; D047628:Estrogen Receptor alpha