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

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 inclu...

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Bibliographic Details
Published in:Journal of medical genetics 1998-11, Vol.35 (11), p.886-889
Main Authors: Longy, M, Coulon, V, Duboué, B, David, A, Larrègue, M, Eng, C, Amati, P, Kraimps, J L, Bottani, A, Lacombe, D, Bonneau, D
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Complex syndromes
Exons
Female
Genes, Tumor Suppressor
Hamartoma Syndrome, Multiple - genetics
Humans
Male
Medical genetics
Medical sciences
Middle Aged
Mutation
Neoplastic Syndromes, Hereditary - genetics
Pedigree
Phenotype
Phosphoric Monoester Hydrolases - genetics
Pigmentation Disorders - genetics
PTEN Phosphohydrolase
Syndrome
Tumor Suppressor Proteins
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.35.11.886