title: Microsatellite instability and loss of heterozygosity in breast cancer.
abstract: Microsatellite instability (MSI) has been described in colorectal and other cancers. The purpose of this study was to determine the presence of MSI in breast cancer and to correlate its occurrence with clinicopathological parameters. For microsatellite markers we examined mono-, di-, tri-, and tetranucleotide repeats that, due to their polymorphic nature, may also be used to investigate loss of heterozygosity. In 20 paired breast cancer-peripheral blood DNA samples we identified four tumors (20%) with somatic MSI. All four tumors were stage I or II, grade 1 or 2, and estrogen receptor positive. To study MSI in relation to tumor progression we also examined paired DNA samples from two ipsilateral and three contralateral breast cancers, as well as two matched tumor-metastatic lymph node specimens. None of these seven cases showed MSI, but two of the contralateral tumors revealed allelic loss of polymorphic repeats. These data suggest that MSI is an early event in mammary tumorigenesis while loss of heterozygosity may occur at a later stage.
authors.affiliation: Department of Pathology, Vanderbilt University, Nashville, Tennessee 37232.
authors.forename: C J
authors.initials: CJ
authors.lastname: Yee
authors.forename: N
authors.initials: N
authors.lastname: Roodi
authors.forename: C S
authors.initials: CS
authors.lastname: Verrier
authors.forename: F F
authors.initials: FF
authors.lastname: Parl
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D001706:Biopsy; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D018270:Carcinoma, Ductal, Breast / Q000235:genetics* / Q000473:pathology; D018275:Carcinoma, Lobular / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000235:genetics* / Q000302:isolation & purification; D004276:DNA, Satellite / Q000097:blood / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D006801:Humans; D008207:Lymphatic Metastasis; D008875:Middle Aged; D008969:Molecular Sequence Data; D009361:Neoplasm Invasiveness; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D004276:DNA, Satellite