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Titolo:
Mutation analysis of NTRK2 and NTRK3, encoding 2 tyrosine kinase receptors, in sporadic human medullary thyroid carcinoma reveals novel sequence variants
Autore:
Gimm, O; Dziema, H; Brown, J; De la Puente, A; Hoang-Vu, C; Dralle, H; Plass, C; Eng, C;
Indirizzi:
Ohio State Univ, Human Canc Genet Program, Ctr Comprehens Canc, Div Human Canc Genet, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 Canc Genet, Columbus, OH 43210 USA Ohio State Univ, Dept Internal Med, Div Human Genet, Clin Canc Genet Program, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 net Program, Columbus, OH 43210 USA Univ Halle Wittenberg, Dept Gen Surg, Halle, Germany Univ Halle Wittenberg Halle Germany berg, Dept Gen Surg, Halle, Germany Univ Cambridge, Canc Res Campaign, Human Canc Genet Res Grp, Cambridge, England Univ Cambridge Cambridge England Canc Genet Res Grp, Cambridge, England
Titolo Testata:
INTERNATIONAL JOURNAL OF CANCER
fascicolo: 1, volume: 92, anno: 2001,
pagine: 70 - 74
SICI:
0020-7136(20010401)92:1<70:MAONAN>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
RET PROTOONCOGENE; MEN 2A; GENE; TRKB; REARRANGEMENT; ONCOGENE; DISEASE; CANCER;
Keywords:
tyrosine kinase; NTRK2; NTRK3; genomic structure; mutation analysis; medullary thyroid carcinoma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Eng, C Ohio State Univ, Human Canc Genet Program, Ctr Comprehens Canc, DivHuman Canc Genet, 420 W 12th Ave,Room 690C MRF, Columbus, OH 43210 USA Ohio State Univ 420 W 12th Ave,Room 690C MRF Columbus OH USA 43210
Citazione:
O. Gimm et al., "Mutation analysis of NTRK2 and NTRK3, encoding 2 tyrosine kinase receptors, in sporadic human medullary thyroid carcinoma reveals novel sequence variants", INT J CANC, 92(1), 2001, pp. 70-74

Abstract

Somatic mutations in the proto-oncogene RET are found in 25% to 80% of sporadic medullary thyroid carcinomas (MTCs), The significance of somatic RET mutation in MTC initiation and progression, however, remains unknown. Like RET, TRK is a neurotrophic receptor tyrosine kinase, Immunostaining has shown that only a subset of normal C cells expresses Trk family receptors, butin C-cell hyperplasia, they consistently express NTRK2, with variable expression of NTRK1 and NTRK3, In later stages of MTC, NTRK2 expression was reduced while NTRK3 expression was increased. In the context of these data, wesought to determine whether sequence variants in NTRK2 and NTRK3 are responsible for these differences in protein expression. We determined the genomic structure of NTRK2 and found that it consists of at least 17 exons varying in size from 36 to 306 bp, Mutation analysis of sporadic MTC did not reveal any sequence variants in NTRK2 but did reveal 3 variants in NTRK3, c.573C>T (N 191N, exon 5), c.678T>C (N226N, exon 6) and c.1488C>G (A496A, exon 12) occurring among 19 chromosomes (31%), 1 chromosome (2%) and 24 chromosomes (39%), respectively. Corresponding germline also harbored these variants. There was a trend toward excess association of the NTRK3 variant c.1488C>G (A496A) in cases (24/62 chromosomes, 39%) compared to controls (18/62, 29%), but this difference did not reach significance (p > 0.05), The remaining 2 NTRK3 variants occurred with similar frequencies between MTC cases andpopulation-matched controls(19 vs. 17 and 1 vs. 0, p > 0.05), We conclude that sequence variants in NTRK2 and NTRK3 are not likely to be responsible for large differences in expression at the protein level, but we cannot exclude very low penetrance effects. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 05/12/20 alle ore 01:23:00