An estrogen receptor genetic polymorphism and a history of spontaneous abortion ? Correlation in women with estrogen receptor positive breast cancer but not in women with estrogen receptor negative breast cancer or in women without cancer

Abstract

We previously identified a polymorphism in the human estrogen receptor gene. In a preliminary study on women with estrogen receptor positive (ER+) breast tumors, we found that the presence of the rarer of the two alleles, the B' allele, is correlated with a history of spontaneous abortion. Because that study evaluated only women with estrogen receptor positive (ER+) breast cancer, it was unknown whether the observed correlation was restricted to the cancer group or was independent of breast cancer. We have now extended our analysis to include not only additional women with ER+ breast cancer, but also those with estrogen receptor negative (ER-) breast cancer and women without cancer. Results of the current study continue to show an association between the B' allele and a history of spontaneous abortion in the ER+ breast cancer group. There was no such correlation either in the ER- breast cancer group or in the group without cancer. Also, we continue to observe, in the ER+ breast cancer group, a significantly higher concentration of ER protein in tumors from homozygous wild type women (genotype BB), than in the tumors from women who are heterozygous for the rarer allele (genotype BB'). We conclude that the combination of spontaneous abortion and the BB' ER genotype may be a marker for breast cancer susceptibility.

A TA Repeat Polymorphism in the Estrogen Receptor Gene Is Associated with Osteoporotic Fractures but Polymorphisms in the First Exon and Intron Are Not

“…In women with ER‐positive breast cancer, history of spontaneous abortions was associated with presence of the b allele of the ER. This association could not be shown in women with ER‐negative breast cancer or women without breast cancer (27–29) . Furthermore, no associations have been shown between G 261 ‐C and incidence of breast cancer (30,46) .…”

“…In human mammary tumors the polymorphism affects the binding of estrogen to the receptor (25) . This polymorphism has been found to be associated with recurrent abortions and breast cancer in some studies (26,27) . Other studies could not confirm these findings (28–30) …”

The Estrogen Receptor α Gene and Breast Cancer Risk (The Netherlands)

“…Probably this difference is due to chance. Furthermore, women with the B¢ allele were more often nulliparous compared to women homozygous for the BB genotype, which could be due to the fact the the B¢ allele has been associated with a higher risk of spontaneous abortions [38].…”

Androgen Receptor Trinucleotide Polymorphism in Leiomyoma

“…Unlike mutations, polymorphisms are not directly linked to a certain disease. However, they are useful tools in the study of multifactorial disorders (16,17). Polymorphism is related with the leiomyoma development, including AR (18), estrogen receptor (19), and insulin-like growth factor II gene polymorphisms (20).…”