LOW-FREQUENCY OF P16 CDKN2 GENE-MUTATIONS IN ESOPHAGEAL CARCINOMAS/

Mutational analysis of the p16/CDKN2 gene was conducted by direct sequ encing of the whole coding sequence (exons 1-3 and flanking splicing s ites) in 21 esophageal squamous-cell carcinomas and 3 adenocarcinomas from a high-incidence area of Italy. Two inactivating mutations were f ound in exon 1 of the gene (both in squamous-cell carcinoma), whereas no mutations were detected in exon 2, where most of the sequence chang es reported so far have been located, or in exon 3. Southern blot anal ysis of exon 2 in this set of samples and in a complementary set of 12 tumor samples from France did not show homozygous deletions or detect able gene rearrangements. Thus, p16/CDKN2 gene alterations do not appe ar to play a major role in the group of patients examined. (C) 1996 Wi ley-Liss, Inc.