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Low frequency of p16 / CDKN 2 gene mutations in esophageal carcinomas
Author(s) -
Esteve Asunción,
MartelPlanche Ghyslaine,
Sylla Bakary S.,
Hollstein Monica,
Hainaut Pierre,
Montesano Ruggero
Publication year - 1996
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/(sici)1097-0215(19960503)66:3<301::aid-ijc5>3.0.co;2-2
Subject(s) - exon , biology , gene , coding region , microbiology and biotechnology , mutation , carcinoma , epidermoid carcinoma , cancer research , gene mutation , rna splicing , esophageal squamous cell carcinoma , genetics , rna
Mutational analysis of the p16 / CDKN 2 gene was conducted by direct sequencing of the whole coding sequence (exons 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 1 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 12 tumor samples from France did not show homozygous deletions or detectable gene rearrangements. Thus, p16 / CDKN 2 gene alterations do not appear to play a major role in the group of patients examined. © 1996 Wiley‐Liss, Inc.