title: Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome.
abstract: Microsatellite instability implying multiple replication errors (RER+ phenotype) characterizes a proportion of colorectal carcinomas, particularly those from patients with the hereditary non-polyposis colorectal carcinoma syndrome. We studied the incidence of microsatellite instability in more than 500 sporadic tumors representing 6 different types of cancer. Apart from colorectal carcinoma [see the paper by Lothe et al. (Cancer Res., 53:5849-5852, 1993)] the RER+ phenotype was found in 18% (6 of 33) of gastric carcinomas and 22% (4 of 18) of endometrial carcinomas. In contrast, no evidence of this abnormality was detected in cancers of the lung (N = 85), breast (N = 84), and testis (N = 86). Importantly, the first three cancers, as opposed to the latter three, are characteristic of the hereditary non-polyposis colorectal carcinoma syndrome. These findings suggest that the cancers belonging to the hereditary non-polyposis colorectal carcinoma tumor spectrum may have essential pathogenetic steps in common, including a tendency to multiple replication errors.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Peltomäki
authors.forename: R A
authors.initials: RA
authors.lastname: Lothe
authors.forename: L A
authors.initials: LA
authors.lastname: Aaltonen
authors.forename: L
authors.initials: L
authors.lastname: Pylkkänen
authors.forename: M
authors.initials: M
authors.lastname: Nyström-Lahti
authors.forename: R
authors.initials: R
authors.lastname: Seruca
authors.forename: L
authors.initials: L
authors.lastname: David
authors.forename: R
authors.initials: R
authors.lastname: Holm
authors.forename: D
authors.initials: D
authors.lastname: Ryberg
authors.forename: A
authors.initials: A
authors.lastname: Haugen
mesh_terms: D002872:Chromosome Deletion; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004261:DNA Replication; D004273:DNA, Neoplasm / Q000032:analysis*; D004276:DNA, Satellite / Q000032:analysis*; D016889:Endometrial Neoplasms / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D013274:Stomach Neoplasms / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D004276:DNA, Satellite