Mutational analysis of the PTEN/MMAC1 gene in primary oesophageal squamous cell carcinomas

Y. C. Hu, K. Y. Lam, Cheuk On Tang, G. Srivastava

Research output: Journal article publicationJournal articleAcademic researchpeer-review

26 Citations (Scopus)

Abstract

Aim - To investigate whether PTEN/MMAC1 mutations play a role in the carcinogenesis of oesophageal squamous cell carcinoma. Methods - A panel of 33 primary oesophageal squamous cell carcinoma tumour samples and 20 corresponding morphologically normal tissues was examined for mutations in all nine exons of the PTEN/MMAC1 gene by means of polymerase chain reaction single strand conformational polymorphism analysis (PCR-SSCP) and direct DNA sequencing methods. Results - Only one of 33 oesophageal squamous cell carcinomas showed an aberrant SSCP band. Further sequencing analysis of this sample revealed an 802 -29 T → C substitution in intron 7. PTEN/MMAC1 mutations were not found in the mutational 'hot spot' in exon 5, even after direct sequencing of six oesophageal squamous cell carcinoma samples and three normal tissues. However, a deletion of one nucleotide T at position 492 +8 in intron 5 was seen in all samples. Conclusion - These results suggest that PTEN/MMAC1 mutations do not play a major role in the carcinogenesis of oesophageal squamous cell carcinoma.
Original languageEnglish
Pages (from-to)353-356
Number of pages4
JournalJournal of Clinical Pathology - Molecular Pathology
Volume52
Issue number6
DOIs
Publication statusPublished - 1 Jan 1999
Externally publishedYes

Keywords

  • Mutation
  • Oesophageal carcinoma
  • Polymerase chain reaction single strand conformational polymorphism analysis
  • PTEN/MMAC1

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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