Somatische RET-Protoonkogenmutationen bei sporadischem C-Zell-Carcinom der Schilddrüse
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Somatische RET-Protoonkogenmutationen bei sporadischem C-Zell-Carcinom der Schilddrüse. / Frilling, A; Bockhorn, M; Kalinin, V; Liedke, M; Kaun, M; Broelsch, C E.
in: CHIRURG, Jahrgang 68, Nr. 8, 01.08.1997, S. 789-93.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Somatische RET-Protoonkogenmutationen bei sporadischem C-Zell-Carcinom der Schilddrüse
AU - Frilling, A
AU - Bockhorn, M
AU - Kalinin, V
AU - Liedke, M
AU - Kaun, M
AU - Broelsch, C E
PY - 1997/8/1
Y1 - 1997/8/1
N2 - Germline mutations of the RET proto-oncogene localized on chromosome 10q11.2 are the underlying cause of hereditary medullary thyroid carcinoma. In MEN 2A and FMTC, mutations can be found in exons 10, 11, 13 or 14. MEN 2B is characterized by a specific mutation in exon 16. In a significant number of sporadic MTC somatic mutations in codon 918 (exon 16) are detectable. Some rare sporadic MTC present somatic mutations in codons 611, 634, 768 and 883. Recently, deletion-insertion of the RET proto-oncogene in exon 11 and a deletion in exon 10 has been found. RET proto-oncogene mutations are not only responsible for the development of the familial MTC, but may also play an important role in the pathogenesis of sporadic MTC. However, the prognostic relevance of these somatic events is still unclear.
AB - Germline mutations of the RET proto-oncogene localized on chromosome 10q11.2 are the underlying cause of hereditary medullary thyroid carcinoma. In MEN 2A and FMTC, mutations can be found in exons 10, 11, 13 or 14. MEN 2B is characterized by a specific mutation in exon 16. In a significant number of sporadic MTC somatic mutations in codon 918 (exon 16) are detectable. Some rare sporadic MTC present somatic mutations in codons 611, 634, 768 and 883. Recently, deletion-insertion of the RET proto-oncogene in exon 11 and a deletion in exon 10 has been found. RET proto-oncogene mutations are not only responsible for the development of the familial MTC, but may also play an important role in the pathogenesis of sporadic MTC. However, the prognostic relevance of these somatic events is still unclear.
KW - Carcinoma, Medullary
KW - Cell Transformation, Neoplastic
KW - Chromosome Deletion
KW - Chromosomes, Human, Pair 10
KW - Codon
KW - DNA Mutational Analysis
KW - DNA, Neoplasm
KW - Drosophila Proteins
KW - Exons
KW - Germ-Line Mutation
KW - Humans
KW - Multiple Endocrine Neoplasia Type 1
KW - Multiple Endocrine Neoplasia Type 2b
KW - Prognosis
KW - Proto-Oncogene Proteins
KW - Proto-Oncogene Proteins c-ret
KW - Receptor Protein-Tyrosine Kinases
KW - Thyroid Gland
KW - Thyroid Neoplasms
KW - Thyroidectomy
M3 - SCORING: Zeitschriftenaufsatz
C2 - 9377989
VL - 68
SP - 789
EP - 793
JO - CHIRURG
JF - CHIRURG
SN - 0009-4722
IS - 8
ER -