Alla Elbendary

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Paul J. Goodfellow

The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute

John I. Risinger

Michigan State University

David G. Mutch

Washington University in St. Louis

Lynn D. Kowalski

Rutgers New Jersey Medical School

Elizabeth M. Swisher

University of Washington

Andrew Berchuck

Duke University

Janet S. Rader

Medical College of Wisconsin

Matthias Köhler

Fraunhofer Institute for Applied Polymer Research

Alexander Berkholz

Friedrich-Alexander-Universität Erlangen-Nürnberg

Thomas J. Herzog

University of Cincinnati

Cooperative Institutions

Washington University in St. Louis

The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute

The Ohio State University

Gynecologic Oncology Group

Cancer Institute (WIA)

Cleveland Clinic

USA Mitchell Cancer Institute

University of South Alabama

Mayo Clinic in Florida

The Ohio State University Wexner Medical Center

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Mutational analysis of the estrogen-receptor gene in endometrial carcinoma

Obstetrics and Gynecology (1995)

Matthias Köhler Alexander Berkholz John I. Risinger Alla Elbendary Julia Boyd

To determine whether mutation in the DNA of the estrogen-receptor gene occurs in endometrial cancer.Polymerase chain reaction amplification and single-stranded conformation polymorphism analysis of the entire coding region (exons 1-8) of the human estrogen-receptor gene, as well as an untranslated region (exon I*) in the gene, were performed on genomic DNA extracted from 56 snap-frozen endometrial cancers. All cancers demonstrating mobility shifts on single-stranded conformation polymorphism suggestive of DNA sequence alteration were subjected to definitive DNA sequencing of the relevant portion of the estrogen-receptor gene.In addition to detecting a frequent, previously described polymorphism in exon 1, single-stranded conformation polymorphism analysis of the 56 endometrial cancers identified seven cancers with mobility shifts. Three cancers shifted in exon 3, one cancer each shifted in exons 4 and 7, and two shifted in exon 8. Deoxyribonucleic acid sequencing revealed sequence alterations in all seven cases demonstrating mobility shifts. In six of these seven cases, these alterations were consistent with infrequent silent polymorphisms; in the seventh cancer, the sequence alteration proved to be a somatic missense mutation at codon 537 in the region of the estrogen-receptor gene encoding the hormone-binding domain of the receptor protein.The infrequent DNA mutation in the estrogen-receptor gene is unlikely to account for the variation in estrogen-receptor expression observed in endometrial cancer.

Estrogen receptor alpha

Estrogen receptor beta

Coding region

10.1016/0029-7844(95)00113-6

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Citations (28)

Analysis of MSH3 in Endometrial Cancers With Defective DNA Mismatch Repair

Journal of the Society for Gynecologic Investigation (1998)

Elizabeth M. Swisher David G. Mutch Thomas J. Herzog Janet S. Rader Lynn D. Kowalski

Microsatellite Instability

10.1177/107155769800500409

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Citations (6)