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Estrogen Receptor Gene Methylation in Human Breast Tumors¹

Department of Medicine/Oncology [N. S. F., S. A. W. F., G. C. C., W. L. M.] and Department of Pediatrics/Hematology/Oncology [M. S. C.], University of Texas Health Science Center, San Antonio, Texas 78284-7884, and Ben May Laboratory for Cancer Research, University of Chicago, Chicago, Illinois 60637 [G. L. G.]

DNA methylation is known to be involved in eukaryotic gene control; it may thus exert effects during development and tumorigenesis. We have examined the methylation status of the estrogen receptor (ER) gene in different human tissues. The ER gene was found to be methylated in placental tissues, but normal breast tissues exhibited a different methylation pattern. In addition, specific sites in the hormone-binding domain of the ER gene were observed to be differently methylated in different human breast tumor specimens. We did not detect, however, any association between the ER status of a tumor and ER gene methylation at these sites. Interestingly, a difference in the methylation status between normal and adjacent breast tumor tissues was observed. Thus, DNA methylation may be considered an additional molecular measure of the genetic heterogeneity in breast cancer.

¹ Supported in part by NIH Grant CA 30195.

² Clinical Research Professor of the American Cancer Society. To whom requests for reprint should be addressed, at University of Texas Health Science Center, Department of Medicine/Oncology, 7703 Floyd Curl Drive, San Antonio, Texas 78284-7884.

Received 12/18/89.

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