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Titolo:
DETECTION OF RET PROTOONCOGENE MUTATION I N THE DIAGNOSIS OF MULTIPLEENDOCRINE NEOPLASIA TYPE-2 (MEN-2)
Autore:
KOMMINOTH P; MULETTAFEURER S; SOLTERMANN A; GEMSENJAGER E; BURGI H; STAUB JJ; SCHONLE E; FRIED M; VETTER W; SPINAS GA; HEITZ PU;
Indirizzi:
UNIV ZURICH,DEPT PATHOL,ABT ZELL & MOL PATHOL,SCHMELZBERGSTR 12 CH-8091 ZURICH SWITZERLAND UNIV ZURICH HOSP,DEPT PATHOL CH-8091 ZURICH SWITZERLAND SPITAL NEUMUNSTER,CHIRURG ABT ZURICH SWITZERLAND KANTONSSPITAL,MED KLIN SOLOTHURN GERMANY UNIV BASEL HOSP,DEPT INNERE MED,ABT ENDOKRINOL & STOFFWECHSEL CH-4031BASEL SWITZERLAND UNIV ZURICH,KINDERKLIN ZURICH SWITZERLAND UNIV SPITAL ZURICH,GASTROENTEROL ABT ZURICH SWITZERLAND UNIV SPITAL ZURICH,MED POLIKLIN ZURICH SWITZERLAND UNIV SPITAL ZURICH,DEPT INNERE MED,ABT ENDOKRINOL & STOFFWECHSEL ZURICH SWITZERLAND
Titolo Testata:
Schweizerische medizinische Wochenschrift
fascicolo: 31-32, volume: 126, anno: 1996,
pagine: 1329 - 1338
SICI:
0036-7672(1996)126:31-32<1329:DORPMI>2.0.ZU;2-J
Fonte:
ISI
Lingua:
GER
Soggetto:
C-CELL HYPERPLASIA; MEDULLARY-THYROID CARCINOMA; PROTEIN-TYROSINE KINASES; POINT MUTATIONS; HIRSCHSPRUNGS-DISEASE; EXPRESSION; FMTC; ONCOGENE; DOMAIN; HYPERPARATHYROIDISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
57
Recensione:
Indirizzi per estratti:
Citazione:
P. Komminoth et al., "DETECTION OF RET PROTOONCOGENE MUTATION I N THE DIAGNOSIS OF MULTIPLEENDOCRINE NEOPLASIA TYPE-2 (MEN-2)", Schweizerische medizinische Wochenschrift, 126(31-32), 1996, pp. 1329-1338

Abstract

We have analyzed 95 blood- and 25 paraffin-derived DNA samples of 120individuals from Switzerland (MEN 2 family members and patients with medullary thyroid carcinoma or pheochromocytoma) for the presence of RET protooncogene mutations in exons 10, 11, 13, 14 and 16, where recently germline point mutations have been identified in more than 95% of patients with MEN 2A, familial medullary thyroid carcinoma (FMTC) and MEN 2B. Molecular DNA screening of samples was performed by non-radioactive single strand conformation polymorphism (SSCP) and heteroduplex gel electrophoresis method followed by mutation analysis of PCR products by direct cycle sequencing using an automated DNA sequencer. We identified 12 MEN 2A/FMSC and 6 MEN 2B families with 29 gene carriers. Ten different types of mutations were identified in the MEN 2A/FMTC families (620 Cys --> Arg, 618 Cys --> Ser, Gly, 611 Cys --> Tyr; 634 Cys --> Arg, Tyr, Trp, Phe, Ser, Gly) and all 6 MEN 2B families had a 918 Met --> Thr point mutation. Our results indicate that PCR-based DNA testing for RET point mutations is a rapid, accurate and reproducible method of identifying MEN 2 gene carriers using blood or tissue DNA. Early detection of gene carriers allows preventive thyroidectomy without neck dissection or parathyroid transplantation, and non-gene carriers can be released from biochemical testing. Furthermore, it is shown that the distribution and localization of RET mutations in MEN 2 familiesfrom Switzerland concur with combined results of larger series and that a ''founder effect'' of MEN 2 can be excluded for this country.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 06:01:58