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Low frequency of p16/CDKN2 gene mutations in esophageal carcinomas

✍ Scribed by Asunción Esteve; Ghyslaine Martel-Planche; Bakary S. Sylla; Monica Hollstein; Pierre Hainaut; Ruggero Montesano


Publisher
John Wiley and Sons
Year
1996
Tongue
French
Weight
515 KB
Volume
66
Category
Article
ISSN
0020-7136

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✦ Synopsis


Mutational analysis of the pl6ICDKN2 gene was conducted by direct sequencing of the whole coding sequence (exom 1-3 and flanking splicing sites) in 21 esophageal squamous-cell carcinomas and 3 adenocarcinomas from a high-incidence area of Italy. Two inactivating mutations were found in exon I of the gene (both in squamous-cell carcinoma), whereas no mutations were detected in exon 2, where most of the sequence changes reported so far have been located, or in exon 3. Southern blot analysis of exon 2 in this set of samples and in a complementary set of I2 tumor samples from France did not show homozygous deletions or detectable gene rearrangements. Thus, pl6l CDKNl gene alterations do not appear to play a major role in the group of patients examined.


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