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

doi:10.1038/sj.onc.1201079

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 journal › Article › peer-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 language	English
Pages (from-to)	2609-2612
Number of pages	4
Journal	Oncogene
Volume	14
Issue number	21
DOIs	https://doi.org/10.1038/sj.onc.1201079
Publication status	Published - 1997

Keywords

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

ASJC Scopus subject areas

Molecular Biology
Cancer Research
Genetics

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Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene. / Ceccherini, Isabella; Pasini, Barbara; Pacini, Furio; Gullo, Maria; Bongarzone, Italia; Romei, Cristina; Santamaria, Giuseppe; Matera, Ivana; Mondellini, Piera; Scopsi, Lucio; Pinchera, Aldo; Pierotti, Marco A.; Romeo, Giovanni.

In: Oncogene, Vol. 14, No. 21, 1997, p. 2609-2612.

Research output: Contribution to journal › Article › peer-review

Ceccherini, Isabella ; Pasini, Barbara ; Pacini, Furio ; Gullo, Maria ; Bongarzone, Italia ; Romei, Cristina ; Santamaria, Giuseppe ; Matera, Ivana ; Mondellini, Piera ; Scopsi, Lucio ; Pinchera, Aldo ; Pierotti, Marco A. ; Romeo, Giovanni. / Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene. In: Oncogene. 1997 ; Vol. 14, No. 21. pp. 2609-2612.

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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.",

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AU - Pacini, Furio

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AU - Bongarzone, Italia

AU - Romei, Cristina

AU - Santamaria, Giuseppe

AU - Matera, Ivana

AU - Mondellini, Piera

AU - Scopsi, Lucio

AU - Pinchera, Aldo

AU - Pierotti, Marco A.

AU - Romeo, Giovanni

PY - 1997

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N2 - 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.

AB - 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.

KW - In frame deletions

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KW - RET proto-oncogene

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KW - Transformation assay

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