Show simple item record

dc.contributor.authorBergthorsson, J T
dc.contributor.authorEgilsson, V
dc.contributor.authorGudmundsson, J
dc.contributor.authorArason, A
dc.contributor.authorIngvarsson, S
dc.date.accessioned2010-10-19T13:24:16Z
dc.date.available2010-10-19T13:24:16Z
dc.date.issued1995-06
dc.date.submitted2010-10-19
dc.identifier.citationClin. Genet. 1995, 47(6):305-10en
dc.identifier.issn0009-9163
dc.identifier.pmid7554364
dc.identifier.doi10.1111/j.1399-0004.1995.tb03970.x
dc.identifier.urihttp://hdl.handle.net/2336/113470
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractAllelic expansion at microsatellite loci in colorectal tumor DNA indicates a genomic instability caused by defects in DNA mismatch repair. This is observed in a high proportion of tumors from individuals affected by hereditary non-polyposis colorectal carcinoma, but to a lesser extent in sporadic colorectal tumors. In this study we screened 46 colorectal tumors for replication errors (RER). Tumors from six patients were found to be RER positive, two of which had a marked family history of colon cancer. In both cases the RER + phenotype was detected in colon tumors from other family members, suggesting a germline mutation in mismatch repair genes. Additionally, RER + phenotype, distinct from that of the colon and sporadic breast tumors, was found in malignant breast tissue from the mother of one proband.
dc.language.isoenen
dc.publisherBlackwell Publishing Incen
dc.relation.urlhttp://dx.doi.org/10.1111/j.1399-0004.1995.tb03970.xen
dc.subject.meshAdulten
dc.subject.meshAge of Onseten
dc.subject.meshAgeden
dc.subject.meshAged, 80 and overen
dc.subject.meshBreast Neoplasmsen
dc.subject.meshColorectal Neoplasms, Hereditary Nonpolyposisen
dc.subject.meshDNA Replicationen
dc.subject.meshDNA, Neoplasmen
dc.subject.meshDNA, Satelliteen
dc.subject.meshFemaleen
dc.subject.meshHeterozygoteen
dc.subject.meshHumansen
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshPedigreeen
dc.subject.meshPhenotypeen
dc.titleIdentification of a breast tumor with microsatellite instability in a potential carrier of the hereditary non-polyposis colon cancer traiten
dc.typeArticleen
dc.contributor.departmentDepartment of Pathology, National University Hospital, Reykjavík, Iceland.en
dc.identifier.journalClinical geneticsen
html.description.abstractAllelic expansion at microsatellite loci in colorectal tumor DNA indicates a genomic instability caused by defects in DNA mismatch repair. This is observed in a high proportion of tumors from individuals affected by hereditary non-polyposis colorectal carcinoma, but to a lesser extent in sporadic colorectal tumors. In this study we screened 46 colorectal tumors for replication errors (RER). Tumors from six patients were found to be RER positive, two of which had a marked family history of colon cancer. In both cases the RER + phenotype was detected in colon tumors from other family members, suggesting a germline mutation in mismatch repair genes. Additionally, RER + phenotype, distinct from that of the colon and sporadic breast tumors, was found in malignant breast tissue from the mother of one proband.


This item appears in the following Collection(s)

Show simple item record