Alteraciones moleculares del protooncogén RET en familias con neoplasia endocrina múltiple tipo 2A

Translated title of the contribution: The molecular pathology of RET protooncogen in families with multiple endocrine neoplasm type 2A

Josefina Biarnés, Mercè Miranda, Jordi Corral, Elisabet Gabau, Xavier Matias-Guiu, Antoni Matilla, Joan Soler, Xavier P. Estivill, Víctor Volpini

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

BACKGROUND: Multiple endocrine neoplasm type 2A (MEN 2A) is an autosomal dominantly inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. Mutations have been identified in the extracellular domain of the RET proto-oncogen product (10q11.2) in MEN 2A patients. In each case a single base pair substitution results in replacement of cysteine with another amino acid. Most MEN 2A patients have mutations of codon 634. PATIENTS AND METHODS: Sixty-five unrelated MEN 2A patients from seven families were studied. Polymerase chain reaction, segregation, sequence analysis and restriction enzyme digestion were performed. RESULTS: Of seven families, four had the TGC to TAC transition, two families the TGC to TGG transversion and one family the TGC to CGC transition in codon 634 of RET. CONCLUSIONS: We found all the mutations in codon 634. The characterization of MEN 2A mutations allows early and presymptomatic diagnosis in this syndrome.

Original languageSpanish
Pages (from-to)321-325
Number of pages5
JournalMedicina Clinica
Volume107
Issue number9
Publication statusPublished - 21 Sep 1996
Externally publishedYes

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Multiple Endocrine Neoplasia Type 2a
Molecular Pathology
Codon
Mutation
Hyperparathyroidism
Pheochromocytoma
Base Pairing
Carcinogens
Cysteine
Sequence Analysis
Early Diagnosis
Digestion
Amino Acids
Polymerase Chain Reaction
Enzymes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Biarnés, J., Miranda, M., Corral, J., Gabau, E., Matias-Guiu, X., Matilla, A., ... Volpini, V. (1996). Alteraciones moleculares del protooncogén RET en familias con neoplasia endocrina múltiple tipo 2A. Medicina Clinica, 107(9), 321-325.

Alteraciones moleculares del protooncogén RET en familias con neoplasia endocrina múltiple tipo 2A. / Biarnés, Josefina; Miranda, Mercè; Corral, Jordi; Gabau, Elisabet; Matias-Guiu, Xavier; Matilla, Antoni; Soler, Joan; Estivill, Xavier P.; Volpini, Víctor.

In: Medicina Clinica, Vol. 107, No. 9, 21.09.1996, p. 321-325.

Research output: Contribution to journalArticle

Biarnés, J, Miranda, M, Corral, J, Gabau, E, Matias-Guiu, X, Matilla, A, Soler, J, Estivill, XP & Volpini, V 1996, 'Alteraciones moleculares del protooncogén RET en familias con neoplasia endocrina múltiple tipo 2A', Medicina Clinica, vol. 107, no. 9, pp. 321-325.
Biarnés J, Miranda M, Corral J, Gabau E, Matias-Guiu X, Matilla A et al. Alteraciones moleculares del protooncogén RET en familias con neoplasia endocrina múltiple tipo 2A. Medicina Clinica. 1996 Sep 21;107(9):321-325.
Biarnés, Josefina ; Miranda, Mercè ; Corral, Jordi ; Gabau, Elisabet ; Matias-Guiu, Xavier ; Matilla, Antoni ; Soler, Joan ; Estivill, Xavier P. ; Volpini, Víctor. / Alteraciones moleculares del protooncogén RET en familias con neoplasia endocrina múltiple tipo 2A. In: Medicina Clinica. 1996 ; Vol. 107, No. 9. pp. 321-325.
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AU - Matias-Guiu, Xavier

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AB - BACKGROUND: Multiple endocrine neoplasm type 2A (MEN 2A) is an autosomal dominantly inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. Mutations have been identified in the extracellular domain of the RET proto-oncogen product (10q11.2) in MEN 2A patients. In each case a single base pair substitution results in replacement of cysteine with another amino acid. Most MEN 2A patients have mutations of codon 634. PATIENTS AND METHODS: Sixty-five unrelated MEN 2A patients from seven families were studied. Polymerase chain reaction, segregation, sequence analysis and restriction enzyme digestion were performed. RESULTS: Of seven families, four had the TGC to TAC transition, two families the TGC to TGG transversion and one family the TGC to CGC transition in codon 634 of RET. CONCLUSIONS: We found all the mutations in codon 634. The characterization of MEN 2A mutations allows early and presymptomatic diagnosis in this syndrome.

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