Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-06

AUTHORS

Lois M. Mulligan, John B. J. Kwok, Catherine S. Healey, Mark J. Elsdon, Charis Eng, Emily Gardner, Donald R. Love, Sara E. Mole, Julie K. Moore, Laura Papi, Margaret A. Ponder, Hakan Telenius, Alan Tunnacliffe, Bruce A. J. Ponder

ABSTRACT

Multiple endocrine neoplasia type 2A (MEN 2A) is a dominantly inherited cancer syndrome that affects tissues derived from neural ectoderm. It is characterized by medullary thyroid carcinoma (MTC) and phaeochromocytoma. The MEN2A gene has recently been localized by a combination of genetic and physical mapping techniques to a 480-kilobase region in chromosome 10q11.2 (refs 2,3). The DNA segment encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in MTC and phaeochromocytoma and at lower levels in normal human thyroid. This suggested RET as a candidate for the MEN2A gene. We have identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls. Further, 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of the RET extracellular and transmembrane domains. More... »

PAGES

458-460

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/363458a0

DOI

http://dx.doi.org/10.1038/363458a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1019766488

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8099202


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