Estrogen receptor α gene polymorphism and breast cancer

Awatif Siddig, Abdelrahim Osman Mohamed, Salma Awad, Ahmed H. Hassan, Erika Zilahi, Mohammed Al-Haj, Roos Bernsen, Abdu Adem

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

13 Scopus citations


Estrogen and estrogen receptors play important roles in the proliferation and development of breast cancer. Several genetic alterations identified in the estrogen receptor α 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).

Original languageBritish English
Title of host publicationRecent Advances in Clinical Oncology
Number of pages13
StatePublished - Sep 2008

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632


  • Breast cancer
  • Estrogen receptor α gene
  • Exon 4
  • Polymorphism


Dive into the research topics of 'Estrogen receptor α gene polymorphism and breast cancer'. Together they form a unique fingerprint.

Cite this