Novel sequence variants of the genes associated with the multiple endocrine neoplasia syndromes 1 and 2. Analysis by an "in silico approach"

Research output: Contribution to journalArticle

Abstract

MEN syndromes (1 and 2) are hereditary tumor syndromes inherited as autosomal dominant traits. The genes that harbor the mutations responsible for the development of these syndromes have been cloned in recent years. In the present study we applied an "in silico" approach to find previously undescribed sequence variants of the RET protooncogene and the MEN1 gene. Sequence comparisons were performed at the National Center for Biotechnology Information Database by the search tool blastn. We found several sequence alterations in both coding and non-coding sequences. The majority of polymorphisms described to date were found by our approach, in addition we observed novel sequence variants of both genes as well. These sequence variants may have both diagnostic and theoretical relevance. In silico strategies may represent new, and potentially effective ways for finding novel sequence variants.

Original languageEnglish
Pages (from-to)609-613
Number of pages5
JournalJournal of Endocrinological Investigation
Volume25
Issue number7
Publication statusPublished - 2002

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Multiple Endocrine Neoplasia
Computer Simulation
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2a
Genes
Information Centers
Biotechnology
Databases
Mutation
Neoplasms

Keywords

  • In silico
  • MEN1 gene
  • Menin
  • Multiple endocrine neoplasia
  • RET

ASJC Scopus subject areas

  • Endocrinology

Cite this

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AB - MEN syndromes (1 and 2) are hereditary tumor syndromes inherited as autosomal dominant traits. The genes that harbor the mutations responsible for the development of these syndromes have been cloned in recent years. In the present study we applied an "in silico" approach to find previously undescribed sequence variants of the RET protooncogene and the MEN1 gene. Sequence comparisons were performed at the National Center for Biotechnology Information Database by the search tool blastn. We found several sequence alterations in both coding and non-coding sequences. The majority of polymorphisms described to date were found by our approach, in addition we observed novel sequence variants of both genes as well. These sequence variants may have both diagnostic and theoretical relevance. In silico strategies may represent new, and potentially effective ways for finding novel sequence variants.

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