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. 1998 Nov;35(11):886-9.
doi: 10.1136/jmg.35.11.886.

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

M Longy  1 , V Coulon, B Duboué, A David, M Larrègue, C Eng, P Amati, J L Kraimps, A Bottani, D Lacombe, D Bonneau
Affiliations

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

M Longy et al. J Med Genet. 1998 Nov.

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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