Document Detail

Identification of a breast tumor with microsatellite instability in a potential carrier of the hereditary non-polyposis colon cancer trait.
MedLine Citation:
PMID:  7554364     Owner:  NLM     Status:  MEDLINE    
Allelic 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.
J T Bergthorsson; V Egilsson; J Gudmundsson; A Arason; S Ingvarsson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  47     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1995 Jun 
Date Detail:
Created Date:  1995-11-20     Completed Date:  1995-11-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  305-10     Citation Subset:  IM    
Department of Pathology, National University Hospital, Reykjavík, Iceland.
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MeSH Terms
Age of Onset
Aged, 80 and over
Breast Neoplasms / genetics*
Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
DNA Replication
DNA, Neoplasm / genetics*
DNA, Satellite / genetics*
Middle Aged
Reg. No./Substance:
0/DNA, Neoplasm; 0/DNA, Satellite

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