Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
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ABSTRACT:
SUBMITTER: Longy M
PROVIDER: S-EPMC1051478 | biostudies-other | 1998 Nov
REPOSITORIES: biostudies-other
Publications
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Longy M M Coulon V V Duboué B B David A A Larrègue M M Eng C C Amati P P Kraimps J L JL Bottani A A Lacombe D D Bonneau D D
Journal of medical genetics 19981101 11
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. ...[more]
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