A medullaris pajzsmirigyrák molekuláris genetikai vizsgálata.

Translated title of the contribution: Molecular genetic study of medullary thyroid cancer

Research output: Contribution to journalArticle

Abstract

Around 25% of medullary thyroid carcinoma (MTC) cases are familial and follow an autosomal dominant mode of inheritance. In these cases, MTC is part of an inherited cancer syndrome that has three distinct forms: MEN2A, MEN2B and familial MTC (FMTC). MEN2A is the most frequent syndrome, followed by FMTC and MEN2B. In 95% of MEN2A families and 85% of FMTC families, the germ-line missense mutations underlying the disease affect one of the five cysteine codons of the extracellular domain of the RET proto-oncogene. The mutated codons are 609, 611, 618 and 620 in exon 10, and 634 in exon 11. The most frequent mutations (80% in MEN2A, and 50% in FMTC) occur in codon 634. In our laboratory, the mutations of the codon 634 was detected by two independent methods: DNA sequencing and restriction fragment length polymorphism with polymerase chain reaction (PCR-RFLP). We have so far examined 105 persons at risk and found 19 positive cases. A positive genetic diagnosis allows preventive thyroidectomy, with a resultant cause-specific survival similar to that for the general population. In the event of a negative result, the family members of the affected proband are relieved of the physical and emotional consequences of the disease and the follow-up procedures. We plan to screen all 240 known Hungarian MTC patients and their relatives.

Original languageHungarian
Pages (from-to)2739-2746
Number of pages8
JournalOrvosi Hetilap
Volume140
Issue number49
Publication statusPublished - Dec 5 1999

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Codon
Molecular Biology
Restriction Fragment Length Polymorphisms
Exons
Polymerase Chain Reaction
Mutation
Proto-Oncogenes
Germ-Line Mutation
Thyroidectomy
Missense Mutation
DNA Sequence Analysis
Cysteine
Survival
Medullary Thyroid cancer
Population
Neoplasms
Familial medullary thyroid carcinoma

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A medullaris pajzsmirigyrák molekuláris genetikai vizsgálata. / Klein, I.; Homolya, V.; Váradi, A.; Ésik, O.

In: Orvosi Hetilap, Vol. 140, No. 49, 05.12.1999, p. 2739-2746.

Research output: Contribution to journalArticle

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