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p53 gene mutations in human endometrial carcinoma
Author(s) -
Risinger John I.,
Dent Georgette A.,
IgnarTrowbridge Diane,
McLachlan John A.,
Tsao MingSound,
Senterman Mary,
Boyd Jeff
Publication year - 1992
Publication title -
molecular carcinogenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.254
H-Index - 97
eISSN - 1098-2744
pISSN - 0899-1987
DOI - 10.1002/mc.2940050403
Subject(s) - biology , loss of heterozygosity , point mutation , exon , allele , genetics , mutation , tumor suppressor gene , gene , carcinoma , cancer research , malignancy , endometrium , carcinogenesis , endocrinology
Although carcinoma of the uterine endometrium is the most frequently diagnosed malignancy of the female reproductive tract, the molecular genetic features of this tumor have yet to be described in significant detail. Since mutations of the p53 tumor suppressor gene are the single most common genetic alteration found in human malignancies, we examined the hypothesis that p53 mutations occur in human endometrial carcinoma. Sequencing analysis of exons 5–8 revealed point mutations in 3 of 21 (14%) tumors; one mutation was an unusual single‐base insertion at codons 176–177, resulting in a premature stop codon, whereas the other two were CGG→TGG transitions at codon 248. Two of these tumors showed reduction to homozygosity at the p53 allele, but one tumor apparently retained heterozygosity. These data indicate that p53 mutations occur in human endometrial carcinoma, although relatively infrequently, and that loss of the normal p53 allele does not necessarily occur with point mutation of the p53 gene in this tumor type. © 1992 Wiley‐Liss, Inc.