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p53 gene mutations in human endometrial carcinoma
J I Risinger1, G A Dent, D Ignar-Trowbridge
1Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.
Molecular Carcinogenesis
|January 1, 1992
Summary
p53 gene mutations are found in 14% of endometrial carcinoma cases. These alterations in the p53 tumor suppressor gene can occur with or without loss of the normal p53 allele.
Area of Science:
- Oncology
- Molecular Genetics
- Gynecologic Oncology
Background:
- Endometrial carcinoma is the most common female reproductive malignancy.
- Detailed molecular genetic features of endometrial tumors are not well-established.
- The p53 tumor suppressor gene is frequently altered in human cancers.
Purpose of the Study:
- To investigate the occurrence and nature of p53 gene mutations in endometrial carcinoma.
- To determine if p53 mutations are associated with loss of heterozygosity at the p53 locus.
Main Methods:
- Sanger sequencing of exons 5-8 of the p53 gene.
- Analysis of 21 endometrial carcinoma tumor samples.
- Genotyping to assess p53 allele status (homozygosity/heterozygosity).
Main Results:
- Point mutations in the p53 gene were identified in 3 out of 21 (14%) tumors.
- Identified mutations included a single-base insertion and two CGG-TGG transitions.
- Two tumors with p53 mutations showed loss of heterozygosity, while one retained heterozygosity.
Conclusions:
- p53 gene mutations are present in a subset of human endometrial carcinomas, albeit infrequently.
- Point mutation of the p53 gene does not invariably lead to the loss of the normal p53 allele in endometrial cancer.