Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: An appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families

Journal of Endocrinological Investigation

Volumn 36, Issue 11, 2013, Pages 975-981

  Valente, F O F ^a   Dias Da Silva, M R ^a   Camacho, C P ^a   Kunii, I S ^a   Bastos, A U ^a   Da Fonseca, C C N ^a   Simiao H P C ^a   Tamanaha, R ^a   Maciel, R M B ^a   Cerutti, J M ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Medullary thyroid carcinoma; MEN 2A; p.C634Y; p.Y791F; RET

Indexed keywords

ANTINEOPLASTIC AGENT; CALCITONIN; CATECHOLAMINE; METADRENALIN; PROLACTIN;

ADOLESCENT; ADRENALECTOMY; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCITONIN BLOOD LEVEL; CLINICAL ARTICLE; EXTERNAL BEAM RADIOTHERAPY; FAMILY HISTORY; FEMALE; FINE NEEDLE ASPIRATION BIOPSY; GENE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LYMPH NODE DISSECTION; LYMPH NODE METASTASIS; MALE; METASTASIS; MICROSATELLITE MARKER; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2; MUTATIONAL ANALYSIS; NECK DISSECTION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHEOCHROMOCYTOMA; PRIMARY HYPERPARATHYROIDISM; PROLACTIN BLOOD LEVEL; PROLACTINOMA; RET GENE; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; BRAZIL; CALCITONIN; CARCINOMA, MEDULLARY; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PEDIGREE; PHENOTYPE; PHEOCHROMOCYTOMA; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 84891667691     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/8997     Document Type: Article

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