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Related Concept Videos

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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Genetic testing for multiple endocrine neoplasia type 2.

Diana Loreta Păun1, Maria Mohora, Carmen Duţă

  • 1C.I. Parhon National Institute of Endocrinology , Bucharest, Romania. dsp@mailbox.ro

Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne
|March 17, 2009
PubMed
Summary

Multiple endocrine neoplasia type 2 (MEN 2) is an inherited syndrome. RET proto-oncogene mutations, particularly in exon 11, are key for identifying carriers and diagnosing MEN 2A.

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Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited syndrome.
  • Distinct proliferative disorders of endocrine tissues characterize MEN 2.
  • RET proto-oncogene mutations are crucial for identifying MEN 2 gene carriers.

Purpose of the Study:

  • To investigate RET proto-oncogene mutations in patients with MEN 2.
  • To identify specific mutations associated with MEN 2A and familial medullary thyroid carcinoma (FMCT).
  • To determine the frequency of known mutations in a cohort of MEN 2 patients.

Main Methods:

  • Genetic analysis of RET proto-oncogene exons 10 and 11 in 22 patients from 14 families.
  • Clinical diagnosis of MEN 2A, MEN 2A with cutaneous lichen amyloidosis, and FMCT.
  • Sequencing of RET proto-oncogene exons to detect mutations.

Main Results:

  • Heterozygous missense mutations in RET proto-oncogene exon 11 were identified in 15 subjects.
  • Three distinct mutations in codon 634 (TGC to TGG, TGC to GGC, TGC to CGC) were found.
  • No mutations were detected in exons 10 and 11 for 7 subjects.

Conclusions:

  • The identified mutations in codon 634 of exon 11 are the most frequent in MEN 2A families.
  • Further sequencing of exons 13-16 is recommended for patients negative for mutations in exons 10 and 11.
  • Genetic testing of RET proto-oncogene is essential for MEN 2 diagnosis and carrier identification.