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

M Longy, V Coulon, B Duboue, A David… - Journal of medical …, 1998 - jmg.bmj.com
M Longy, V Coulon, B Duboue, A David, M Larregue, C Eng, P Amati, JL Kraimps, A Bottani…
Journal of medical genetics, 1998jmg.bmj.com
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.
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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