Infrequent frameshift mutations of polynucleotide repeats in multiple primary cancers affecting the esophagus and other organs

Takeshi Iwaya, Chihaya Maesawa, Satoshi Nishizuka, Yasushi Suzuki, Ken Sakata, Nobuhiro Sato, Kenichiro Ikeda, Keisuke Koeda, Satoshi Ogasawara, Koki Otsuka, Yusuke Kimura, Kiichi Aoki, Kaoru Ishida, Kazuyoshi Saito, Gen Tamura

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14 Citations (Scopus)

Abstract

Frequent frameshift mutations of simple nucleotide repeats in the protein-encoding regions, as well as replication errors (RERs) at microsatellite loci, have recently been demonstrated in gastrointestinal tumors. These genetic instabilities have been considered indicative of an increased risk of accumulating mutations in cancer-associated genes and of developing multiple cancers. We studied frameshift (or insertion/deletion) mutations of simple nucleotide repeats in five genes (TGFβ type II receptor [TGFβRII], E2F4, MSH2, MSH3, and MSH6) in 23 tumors from 12 patients who had synchronous cancers of the esophagus and other organs. Genetic instability at four microsatellite loci, as well as mutations in the TP53, APC, and KRAS2 genes, were also studied. No frameshift mutations were observed in the TGFβRII, MSH3, and MSH6 genes. RER and a deletion mutation of BAT26 in MSH2 were present in one (1/23; 4%) gastric cancer. This tumor also carried a deletion mutation in the serine (AGC) repeat of the E2F4 gene. Mutation screening of the TP53, APC, and KRAS2 genes revealed that the synchronous cancers did not carry the same mutations. Our results suggested that genetic instability, such as insertion/deletion mutations in simple nucleotide repeats, is not significantly associated with the development of multiple primary cancers of the esophagus and other organs, and that these synchronous cancers developed independently according to their different environmental factors.

Original languageEnglish
Pages (from-to)317-322
Number of pages6
JournalGenes Chromosomes and Cancer
Volume23
Issue number4
DOIs
Publication statusPublished - 12-1998
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Cancer Research

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