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Article

PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.

Japanese journal of clinical oncology - 1 Dec 2006

Suphapeetiporn Kanya, Kongkam Pradermchai, Tantivatana Jarturon, Sinthuwiwat Thivaratana, Tongkobpetch Siraprapa, Shotelersuk Vorasuk

Abstract excerpt

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant disorder characterized by macrocephaly, intestinal hamartomatous polyps, lipomas and pigmented macules of the glans penis. We identified a Thai family affected with BRRS. In addition to typical manifestations of BRRS, the proband has a large hepatic AVM which is rarely found in BRRS. The molecular analysis revealed affected members were...

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Source

Identifiers

PMID: 17043057
DOI: 10.1093/jjco/hyl107

Genes

PTEN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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