Cowden disease: gene marker studies and measurements of epidermal growth factor.

Abstract

Cowden disease (CD) is a familial syndrome characterized by tumors of the skin, oral mucosa, breast, thyroid, and intestinal epithelium. Since the syndrome is inherited as an autosomal dominant, we examined a battery of gene markers in a family with CD to detect linkage between the CD gene and known marker genes. There was no positive evidence for linkage of a CD locus with any of the markers; other investigators can add to our data to confirm and extend these findings. Additionally, we measured epidermal growth factor (EGF) in body fluids from CD patients and controls to determine if elevated EGF levels might be responsible for the widespread epithelial proliferation in CD. EGF levels in saliva, serum, plasma, and urine were similar in CD patients and control subjects. Although alterations in growth factors or their receptors may play a role in CD, excess circulating EGF is not responsible for the manifestations of the syndrome.

• Authors: H E Carlson, T W Burns, S L Davenport, A M Luger, M A Spence, R S Sparkes, D N Orth
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 38 Issue 6 Pg. 908-17 (Jun 1986) ISSN: 0002-9297 [Print] United States
• PMID: 3487976 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Genetic Markers
• Epidermal Growth Factor

Topics

• Adult
• Body Fluids (analysis)
• Epidermal Growth Factor (analysis)
• Female
• Genetic Markers
• Hamartoma (genetics, metabolism)
• Humans
• Lod Score
• Male
• Neoplasms, Multiple Primary (genetics, metabolism)
• Skin Neoplasms (genetics, metabolism)