Genetic instability of microsatellites in endometrial carcinoma

Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by a familial predisposition to colorectal carcinoma and extracolonic cancers of the gastrointestinal, urological, and female reproductive tracts, notably the endometrium. A genetic locus for HPNCC was recently determined by linkage...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1993-11, Vol.53 (21), p.5100-5103
Main Authors: RISINGER, J. I, BERCHUCK, A, KOHLER, M. F, WATSON, P, LYNCH, H. T, BOYD, J
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Carcinoma, Endometrioid - genetics
Carcinoma, Endometrioid - pathology
Chromosome Mapping
Chromosomes, Human, Pair 2
Colorectal Neoplasms - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA, Satellite - analysis
DNA, Satellite - genetics
Female
Female genital diseases
Gynecology. Andrology. Obstetrics
Humans
Medical sciences
Middle Aged
Mutation
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
Polymerase Chain Reaction - methods
Repetitive Sequences, Nucleic Acid
Tumors
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Summary:Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by a familial predisposition to colorectal carcinoma and extracolonic cancers of the gastrointestinal, urological, and female reproductive tracts, notably the endometrium. A genetic locus for HPNCC was recently determined by linkage analysis to exist on chromosome 2p; both sporadic and HNPCC-associated colorectal carcinomas exhibit a "replication error" phenotype, characterized by instability of dinucleotide repeat sequences throughout the genome. Here, we address the hypothesis that the replication error phenotype would be evident in some fraction of sporadic endometrial carcinomas or in those associated with HNPCC. Microsatellite instability was observed in 17% of sporadic endometrial carcinomas and in 75% of those tumors associated with HNPCC. These data indicate that the HNPCC gene is also involved in heritable and somatic forms of endometrial carcinoma.
ISSN:0008-5472
1538-7445