Abstract:
:Somatic RET mutations have been identified in a 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.
journal_name
Oncogenejournal_title
Oncogeneauthors
Ceccherini I,Pasini B,Pacini F,Gullo M,Bongarzone I,Romei C,Santamaria G,Matera I,Mondellini P,Scopsi L,Pinchera A,Pierotti MA,Romeo Gdoi
10.1038/sj.onc.1201079subject
Has Abstractpub_date
1997-05-29 00:00:00pages
2609-12issue
21eissn
0950-9232issn
1476-5594journal_volume
14pub_type
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