Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cowden's syndrome with immunodeficiency.

Journal of medical genetics - 1 Dec 2015

Browning Michael J, Chandra Anita, Carbonaro Valentina, Okkenhaug Klaus, Barwell Julian

Abstract excerpt

BACKGROUND: Cowden's syndrome is a rare, autosomal dominant disease caused by mutations in the phosphoinositide 3-kinase and phosphatase and tensin homolog (PTEN) gene. It is associated with hamartomatous polyposis of the gastrointestinal tract, mucocutaneous lesions and increased risk of developing certain types of cancer. In addition to increased risk of tumour development, mutations in PTEN have also been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer Immunotherapy and Biomarkers
Share to Child
Share to PTEN gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hamartoma Syndrome, Multiple

Share to Immunologic Deficiency Syndromes

Share to Mutation

Share to PI3K/AKT/mTOR signaling in cancer

Share to PTEN Phosphohydrolase

Source

Open in PubMed Open full text

Identifiers

PMID: 26246517
DOI: 10.1136/jmedgenet-2015-103266
PMCID: PMC4661225

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cowden's syndrome with immunodeficiency.PMID 26246517Read ↗

Cowden Syndrome: A Critical Review of the Clinical LiteratureSemantic proximity Read ↗

Cowden syndrome: clinical case and a brief review.Semantic proximity Read ↗

PTEN mosaicism with features of Cowden syndrome.Semantic proximity Read ↗

A case of Cowden syndrome diagnosed from multiple gastric polyposis.Semantic proximity Read ↗

Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy.Semantic proximity Read ↗

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

Cowden SyndromeSemantic proximity Read ↗

Cowden syndrome.Semantic proximity Read ↗

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature.Semantic proximity Read ↗

Enhanced lymphocyte interferon (IFN)-γ responses in a PTEN mutation-negative Cowden disease kindred.Semantic proximity Read ↗

[Thyroid cancer in a child with Cowden syndrome].Semantic proximity Read ↗

A case of Cowden syndrome with a novel mutation in the PTEN gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.