© 1994 Oxford University Press
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Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers
1Department of Biochemistry, Cancer Institute 1-37-1 Kami-kebukuro, Toshima-ku, Tokyo 170 2Department of Surgery II, Kumamoto University Medical School 1-1-1 Honjyo, Kumamoto 860, Japan
*To whom correspondence should be addressed
Received December 9, 1993; Accepted February 11, 1994
To Investigate a potential role of NF2, the gene responsible for hereditary bilateral acoustic neurl-nomas, during carcinogenesis of non-neurogenic tissues, we screened somatic mutations of NF2 In 55 breast cancers and 44 colorectal carcinomas by an RNase protection assay coupled with the reverse-transcriptase polymerase chain reaction (RT-PCR). By screening the entire coding region of the gene in these tumors, we detected missense mutations in the exon encoding the 
-hellcal domain of the NF2 product in two colorectal carcinomas. No mutations were detected In any of the breast cancers. Our results suggested that inactivation of the NF2 gene was associated with carcinogenesis in some, but not the majority of, colorectal tumors, we found various In the course of these analyses, we found various alternatively-spliced forms of NF2 transcript. These variants showed no specificity among the tissues examined except for one that resulted from alternative splicing at the 3'-region; this form was more abundantly expressed in skeletal and cardiac muscles than in other tissues.
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