ID 111528
Title Alternative
The molecular genetics of multiple endocrine neoplasia type 2A and 2B
Author
Keywords
10q 11.2
Loss of heterozygosity
Ret proto-oncogene
Mutation
Content Type
Journal Article
Description
Multiple endocrine neoplasia (MEN) type 2A (MEN 2A) and type 2B (MEN 2B) are dominantly inherited with a predisposition to endocrine tumors. The responsible genes for MEN 2A and 2B have recently been localized to chromosome 10q 11.2 by genetic and physical mapping. The DNA segment encompasses the RET proto-oncogene. This is a receptor tyrosine kinase gene, which is expressed in medullary thyroid carcinoma and pheochromocytoma. Point mutations in the cysteine-rich domain of the RET were demonstrated in patients with MEN 2A. The cosegregation of these mutations and disease in MEN 2A families indicates that they possess a predisposition endocrine organs to develop into tumors. Biological assesment of the mutant forms in cell culture and trans­genic mouse lines should provide further insight as to the role of the RET in the tumor development.
Journal Title
Japanese journal of clinical medicine
ISSN
00471852
NCID
AN00198641
Publisher
日本臨牀社
Volume
52
Issue
4
Start Page
1081
End Page
1086
Published Date
1994-04
EDB ID
FullText File
language
jpn
TextVersion
Publisher
departments
Oral Sciences