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Article

Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.

American journal of human genetics - 1 Nov 2006

Pezzolesi Marcus G, Li Yan, Zhou Xiao-Ping, Pilarski Robert, Shen Lei, Eng Charis

Abstract excerpt

Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) encodes a tumor-suppressor phosphatase frequently mutated in both sporadic and heritable forms of human cancer. Germline mutations are associated with a number of heritable cancer syndromes that are jointly referred to as the "PTEN ha...

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Share to Chromosomes, Human, Pair 10
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hamartoma Syndrome, Multiple

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Source

Open in PubMed Open full text

Identifiers

PMID: 17033968
DOI: 10.1086/508943
PMCID: PMC1698555

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17033968-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.PMID 17033968Read ↗

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65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine.Semantic proximity Read ↗

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