Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2.
J Mol Med (Berl)
; 73(5): 229-33, 1995 May.
Article
en En
| MEDLINE
| ID: mdl-7670926
ABSTRACT
Medullary thyroid carcinoma occurs sporadically or as a part of the inherited cancer syndrome multiple endocrine neoplasia (MEN) type 2. The MEN 2 gene has been identified as the RET proto-oncogene on chromosome 10. In MEN 2A, RET mutations are detectable in one of five cysteine codons within exons 10 and 11 and in MEN 2B in codon 918 (exon 16). Direct DNA testing for RET proto-oncogene mutations is the method of first choice in presymptomatic screening of MEN 2 families. Gene carriers should be offered prophylactic thyroidectomy. The process of DNA analysis for RET proto-oncogene mutations is demonstrated in one family with hereditary medullary thyroid carcinoma. RET mutations were detectable in five of the nine family members at risk.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias de la Tiroides
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Pruebas Genéticas
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Carcinoma Medular
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Neoplasia Endocrina Múltiple Tipo 2a
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Proteínas de Drosophila
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
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Risk_factors_studies
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Screening_studies
Límite:
Adult
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Aged
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Child, preschool
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Humans
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Infant
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Male
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Middle aged
Idioma:
En
Revista:
J Mol Med (Berl)
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Año:
1995
Tipo del documento:
Article
País de afiliación:
Alemania