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Article

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

Human molecular genetics - 1 Aug 1999

Marsh D J, Kum J B, Lunetta K L, Bennett M J, Gorlin R J, Ahmed S F, Bodurtha J, Crowe C, Curtis M A, Dasouki M, Dunn T, Feit H, Geraghty M T, Graham J M, Hodgson S V, Hunter A, Korf B R, Manchester D, Miesfeldt S, Murday V A, Nathanson K L, Parisi M, Pober B, Romano C, Eng C

Abstract excerpt

Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR). PTEN maps to 10q23 and encodes a dual specificity phosphatase, a substrate of which is phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway. CS is characterized by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10400993
DOI: 10.1093/hmg/8.8.1461

Genes

PTEN

Provenance

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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.PMID 10400993Read ↗

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

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