Infrequent mutations of the transforming growth factor beta-type II receptor gene at chromosome 3p22 in human lung cancers with chromosome 3p deletions |
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Authors: | Tani M; Takenoshita S; Kohno T; Hagiwara K; Nagamachi Y; Harris CC; Yokota J |
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Institution: | Biology Division, National Cancer Center Research Institute, Chuo-ku, Tokyo, Japan. |
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Abstract: | Mutations in the transforming growth factor beta-type II receptor (TGFbeta
RII) gene have been detected in several types of human cancers that
represent the phenotype of genomic instability. The TGFbeta RII gene has
been mapped to chromosome 3p, on which loss of heterozygosity (LOH) was
frequently detected in both small cell lung carcinoma (SCLC) and non-small
cell lung carcinoma (NSCLC). To investigate whether the TGFbeta RII gene on
3p22 is inactivated in lung cancers, we examined 35 sporadic lung cancers
(15 SCLC and 20 NSCLC) with LOH on 3p for mutations of the TGFbeta RII
gene. We previously produced eight intron based primer pairs for mutational
analysis of the entire coding region of the TGFbeta RII gene. Using these
primers, we screened for mutations of the TGFbeta RII gene by polymerase
chain reaction-single strand conformational polymorphism (PCR-SSCP)
analysis. A mutation was detected in a case of SCLC: one base insertion in
the polyadenine tract of exon 3. This tumor showed the replication error
(RER) phenotype. There were no mutations in exons 1, 2, 4, 5, 6 and 7.
These results indicate that the polyadenine tract is a mutational hot spot
in the TGFbeta RII gene in RER positive tumors, and that TGFbeta RII
mutations occur rarely in lung cancers with LOH on chromosome 3p.
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