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

DJ, Marsh; JB, Kum; KL, Lunetta; MJ, Bennett; RJ, Gorlin; SF, Ahmed; J, Bodurtha; C, Crowe; MA, Curtis; M, Dasouki; T, Dunn; H, Feit; MT, Geraghty; JM Jr, Graham; SV, Hodgson; A, Hunter; BR, Korf; D, Manchester; S, Miesfeldt; VA, Murday; KL, Nathanson; M, Parisi; B, Pober; C, Romano; C, Eng

doi:10.1093/hmg/8.8.1461

Public

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

Shared by NobleBlocks on Aug 1, 1999 • 12:00 AM UTC

Authors:

Marsh DJ

Kum JB

Lunetta KL

Abstract

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 phosphati...

Discussions