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result sql = Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC.
Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC.
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char = .;code = 46
char = ;code = 32
char = M;code = 77
char = E;code = 69
char = N;code = 78
char = ;code = 32
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char = r;code = 114
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char = q;code = 113
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char = ;code = 32
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char = o;code = 111
char = d;code = 100
char = e;code = 101
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char = ;code = 32
char = f;code = 102
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char = ;code = 32
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char = ;code = 32
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char = e;code = 101
char = n;code = 110
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char = ;code = 32
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char = o;code = 111
char = l;code = 108
char = e;code = 101
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char = ;code = 32
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char = ;code = 32
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char = t;code = 116
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char = i;code = 105
char = e;code = 101
char = d;code = 100
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char = t;code = 116
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char = t;code = 116
char = i;code = 105
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char = s;code = 115
char = ;code = 32
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char = n;code = 110
char = d;code = 100
char = ;code = 32
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char = h;code = 104
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char = a;code = 97
char = p;code = 112
char = y;code = 121
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = r;code = 114
char = r;code = 114
char = i;code = 105
char = e;code = 101
char = r;code = 114
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result sql = Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the RET proto-oncogene. Three distinct clinical subtypes of MEN 2 have been characterized: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). The specific RET mutation may suggest a predilection toward a particular phenotype and clinical course, with strong genotype-phenotype correlations. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on classification of RET mutations into risk levels according to genotype-phenotype correlations. The excellent prognosis for MTC diagnosed at its earliest stage underscores the importance of prospective screening (calcitonin screening) for sporadic MTC and early diagnosis by RET-mutation analysis for hereditary MTC. MEN 2 provides a unique model for early prevention and cure of cancer and for the roles of stratified mutation-based diagnosis and therapy of carriers.

Publication: Mol. Cell. Endocrinol. 2010 Jun 30 ;322(1-2)::2-7. :doi: 10.1016/j.mce.2010.01.012.
Publication Date: 2010 Jun 30
Study Author(s): Frank-Raue, Karin;Rondot, Susanne;Raue, Friedhelm;
Institution: Endocrine Practice, Molecular Laboratory, Brueckenstr. 21, Heidelberg 69120, Germany. karin.frankraue@raue-endokrinologie.de
Shortcut link to this study:
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the RET proto-oncogene. Three distinct clinical subtypes of MEN 2 have been characterized: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). The specific RET mutation may suggest a predilection toward a particular phenotype and clinical course, with strong genotype-phenotype correlations. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on classification of RET mutations into risk levels according to genotype-phenotype correlations. The excellent prognosis for MTC diagnosed at its earliest stage underscores the importance of prospective screening (calcitonin screening) for sporadic MTC and early diagnosis by RET-mutation analysis for hereditary MTC. MEN 2 provides a unique model for early prevention and cure of cancer and for the roles of stratified mutation-based diagnosis and therapy of carriers.
PMID: 20083156

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