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Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.


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.

SUBMITTER: Longy M 

PROVIDER: S-EPMC1051478 | biostudies-other | 1998 Nov

REPOSITORIES: biostudies-other

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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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