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Article

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

Journal of medical genetics - 1 Nov 1998

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 9832032
DOI: 10.1136/jmg.35.11.886
PMCID: PMC1051478

Genes

PTEN

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.PMID 9832032Read ↗

An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family.Semantic proximity Read ↗

PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.Semantic proximity Read ↗

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.Semantic proximity Read ↗

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Semantic proximity Read ↗

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.Semantic proximity Read ↗

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.Semantic proximity Read ↗

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.Semantic proximity Read ↗

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosisSemantic proximity Read ↗

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive ReviewSemantic proximity Read ↗

PTEN Hamartoma Tumor Syndrome: A Clinical OverviewSemantic proximity Read ↗

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.Semantic proximity Read ↗

Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome.Semantic proximity Read ↗

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