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Identification of a breast tumor with microsatellite instability in a potential carrier of the hereditary non‐polyposis colon cancer trait
Author(s) -
Bergthorsson Jon Thor,
Egilsson Valgardur,
Gudmundsson Julius,
Arason Adalgeir,
Ingvarsson Sigurdur
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03970.x
Subject(s) - microsatellite instability , colorectal cancer , dna mismatch repair , proband , breast cancer , germline mutation , cancer research , biology , family history , phenotype , breast carcinoma , cancer , mutation , allele , microsatellite , medicine , oncology , genetics , gene
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.