Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene

Isabella Ceccherini, Barbara Pasini, Furio Pacini, Maria Gullo, Italia Bongarzone, Cristina Romei, Giuseppe Santamaria, Ivana Matera, Piera Mondellini, Lucio Scopsi, Aldo Pinchera, Marco A. Pierotti, Giovanni Romeo

Research output: Contribution to journalArticlepeer-review

Abstract

Somatic RET mutations have been identified in variable proportion (about 30-70%) of sporadic Medullary Thyroid Carcinoma (MTC) cases. They are represented by the Met918Thr substitution (exon 16) typical of Multiple Endocrine Neoplasia type 2B (MEN2B) and, to a lesser extent, by nucleotide changes occurring at one of five critical cysteine residues (exons 10 and 11) typical of MEN type 2A (MEN2A). An in vitro transforming activity has already been demonstrated for these mutations. A few different MTC somatic mutations have been reported so far whose biological activity has still to be tested. In this paper we report the identification, in two MTC tumor samples, of two interstitial deletions of 48 bp and 6 bp occurred in exons 10 and 11 respectively. Both were somatic heterozygous in frame mutations, not involving any cysteine residue. Moreover, the expression of a full length RET cDNA carrying one of the two deletions demonstrated a strong transforming capacity in NIH3T3 cells.

Original languageEnglish
Pages (from-to)2609-2612
Number of pages4
JournalOncogene
Volume14
Issue number21
DOIs
Publication statusPublished - 1997

Keywords

  • In frame deletions
  • MTC patients
  • RET proto-oncogene
  • Somatic mutations
  • Transformation assay

ASJC Scopus subject areas

  • Molecular Biology
  • Cancer Research
  • Genetics

Fingerprint Dive into the research topics of 'Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene'. Together they form a unique fingerprint.

Cite this