Lehrer S P, Schmutzler R K, Rabin J M, Schachter B S
Department of Radiation Oncology, Mount Sinai Medical School, New York, NY 10029.
Breast Cancer Res Treat. 1993;26(2):175-80. doi: 10.1007/BF00689690.
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.
我们之前在人类雌激素受体基因中鉴定出一种多态性。在一项针对雌激素受体阳性（ER+）乳腺肿瘤女性的初步研究中，我们发现两种等位基因中较罕见的B'等位基因的存在与自然流产史相关。由于该研究仅评估了雌激素受体阳性（ER+）乳腺癌女性，因此尚不清楚所观察到的相关性是仅限于癌症组还是与乳腺癌无关。我们现在已将分析范围扩大，不仅纳入了更多的ER+乳腺癌女性，还纳入了雌激素受体阴性（ER-）乳腺癌女性以及无癌症女性。当前研究结果继续表明，在ER+乳腺癌组中，B'等位基因与自然流产史之间存在关联。在ER-乳腺癌组或无癌症组中均不存在这种相关性。此外，我们继续观察到，在ER+乳腺癌组中，纯合野生型女性（基因型BB）肿瘤中的ER蛋白浓度显著高于携带较罕见等位基因杂合子的女性（基因型BB'）肿瘤中的ER蛋白浓度。我们得出结论，自然流产与BB' ER基因型的组合可能是乳腺癌易感性的一个标志物。
