Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Open Access
- 1 November 1998
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 35 (11) , 886-889
- https://doi.org/10.1136/jmg.35.11.886
Abstract
We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.Keywords
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