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

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 t wo alleles, the B' allele, is correlated with a history of spontaneous abortion. Because that study evaluated only women with estrogen recep tor positive (ER+) breast cancer, it was unknown whether the observed correlation was restricted to the cancer group or was independent of b reast cancer. We have now extended our analysis to include not only ad ditional women with ER+ breast cancer, but also those with estrogen re ceptor negative (ER-) breast cancer and women without cancer. Results of the current study continue to show an association between the B' al lele and a history of spontaneous abortion in the ER+ breast cancer gr oup. There was no such correlation either in the ER- breast cancer gro up or in the group without cancer. Also, we continue to observe, in th e 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 (ge notype BB+). We conclude that the combination of spontaneous abortion and the BB' ER genotype may be a marker for breast cancer susceptibili ty.