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Mutations in an Alu repeated sequence associated with the DXS43 locus in human small cell lung cancers.

Point mutations in an Alu repeated sequence associated with the DXS43 locus were identified in two out of 10 human small cell lung cancers. Since these aberrations were identified in DNA from both metastatic lesions and primary lesions from the same patient, they would appear to have occurred at a relatively early stage. Although this sequence is not apparently associated with known genes, these tumor-specific mutations occurred at an early stage may play an important role in tumorigenesis.