Deletion of genes on chromosome 1 in endocrine neoplasia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1987-08

AUTHORS

C. G. P. Mathew, B. A. Smith, K. Thorpe, Z. Wong, N. J. Royle, A. J. Jeffreys, B. A. J. Ponder

ABSTRACT

Recent studies have identified normal cellular DNA sequences which are lost in the development of embryonal1–6 and adult7,8 tumours. These tumours are thought to arise after a primary mutation in one allele of such a sequence is followed by loss of its normal homologue. In familial cases, the primary mutation is transmitted in the germ line. The secondary mutation may involve a substantial loss of chromosomal material and thus lead to identification of the site of the inherited mutation. We have examined constitutional and tumour genotypes of medullary thyroid carcinomas and phaeochromocytomas which develop in the dominantly inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2) 9 to locate the predisposing gene in this syndrome. We observed deletion of a hypervariable region of DNA on the short arm of chromosome 1 in seven out of fourteen tumours. Analysis of the parental origin of the deleted allele in two families showed that it was derived from the affected parent in one case, which suggests that the deletion does not reflect the site of the inherited mutation in MEN2. The deleted region is distal to the breakpoint commonly detected in neuroblastomas, which share with the tumours of MEN2 embryological origin from neuroectoderm. More... »

PAGES

524-526

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/328524a0

DOI

http://dx.doi.org/10.1038/328524a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1014266847

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/3614355


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