Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ATG) mutation

Background: Multiple endocrine neoplasia type 2 (MEN 2) and familial medullary thyroid carcinoma (FMTC) are autosomal dominantly inherited cancer syndromes that predispose to C-cell hyperplasia and MTC. MEN 2A and FMTC are caused by mutations in the RET proto-oncogene. Methods: We used a multiplex p...

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Veröffentlicht in:	Surgery 2000-07, Vol.128 (1), p.93-98
Hauptverfasser:	Feldman, Gerald L., Edmonds, Merrill W., Ainsworth, Peter J., Schuffenecker, Isabelle, Lenoir, Gilbert M., Saxe, Andrew W., Talpos, Gary B., Roberson, Jacquelyn, Petrucelli, Nancie, Jackson, Charles E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Aged Aged, 80 and over Biological and medical sciences Carcinoma, Medullary - genetics Carcinoma, Medullary - surgery Drosophila Proteins Endocrinopathies Exons Family Health Female Humans Male Malignant tumors Medical sciences Middle Aged Pedigree Phenotype Point Mutation Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins c-ret Receptor Protein-Tyrosine Kinases - genetics Thyroid Neoplasms - genetics Thyroid Neoplasms - surgery Thyroid. Thyroid axis (diseases) Thyroidectomy
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