J Med Genet. 1998 Nov;35(11):886-9.

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

Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, Bonneau D.

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Laboratoire d'Oncologie Moléculaire, Institut Bergonié, Bordeaux, France.

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.

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Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. [Am J Med Genet. 1998]
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