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 | |
| Publication status | Published - 1997 |
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Keywords
- In frame deletions
- MTC patients
- RET proto-oncogene
- Somatic mutations
- Transformation assay
ASJC Scopus subject areas
- Molecular Biology
- Cancer Research
- Genetics
Cite this
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
}
TY - JOUR
T1 - Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene
AU - Ceccherini, Isabella
AU - Pasini, Barbara
AU - Pacini, Furio
AU - Gullo, Maria
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
Y1 - 1997
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
KW - MTC patients
KW - RET proto-oncogene
KW - Somatic mutations
KW - Transformation assay
UR - http://www.scopus.com/inward/record.url?scp=8544228324&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=8544228324&partnerID=8YFLogxK
U2 - 10.1038/sj.onc.1201079
DO - 10.1038/sj.onc.1201079
M3 - Article
C2 - 9191060
AN - SCOPUS:8544228324
VL - 14
SP - 2609
EP - 2612
JO - Oncogene
JF - Oncogene
SN - 0950-9232
IS - 21
ER -