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Infrequent frameshift mutations of polynucleotide repeats in multiple primary cancers affecting the esophagus and other organs
Author(s) -
Iwaya Takeshi,
Maesawa Chihaya,
Nishizuka Satoshi,
Suzuki Yasushi,
Sakata Ken,
Sato Nobuhiro,
Ikeda Kenichiro,
Koeda Keisuke,
Ogasawara Satoshi,
Otsuka Koki,
Kimura Yusuke,
Aoki Kiichi,
Ishida Kaoru,
Saito Kazuyoshi,
Tamura Gen
Publication year - 1998
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199812)23:4<317::aid-gcc6>3.0.co;2-w
Subject(s) - frameshift mutation , msh6 , biology , microsatellite instability , genetics , msh2 , mutation , mlh1 , gene , dna mismatch repair , cancer research , microsatellite , dna repair , germline mutation , allele
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 [ TGF β RII ], 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 TGF β RII , 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. Genes Chromosomes Cancer 23:317–322, 1998. © 1998 Wiley‐Liss, Inc.