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Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
  1. M Longy,
  2. V Coulon,
  3. B Duboué,
  4. A David,
  5. M Larrègue,
  6. C Eng,
  7. P Amati,
  8. J L Kraimps,
  9. A Bottani,
  10. D Lacombe,
  11. D Bonneau
  1. 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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