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

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

American journal of human genetics - 10 Feb 2012

Blaydon Diana C, Etheridge Sarah L, Risk Janet M, Hennies Hans-Christian, Gay Laura J, Carroll Rebecca, Plagnol Vincent, McRonald Fiona E, Stevens Howard P, Spurr Nigel K, Bishop D Timothy, Ellis Anthony, Jankowski Janusz, Field John K, Leigh Irene M, South Andrew P, Kelsell David P

Abstract excerpt

Tylosis esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. We have previously localized the TOC locus to a small genomic interval within chromosomal region 17q25. Using a targeted capture array and next-generation sequencing, we have now identified missense mutations (c.557T>C [p.Ile186Thr] and...

Read the complete abstract on PubMed

Topics

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

Share to Carcinoma, Squamous Cell
Share to Cell Growth Processes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Esophageal Neoplasms

Share to Keratinocytes

Share to Serine Endopeptidases

Share to Serine Proteases

Share to Untranslated Regions

Source

Open in PubMed Open full text

Identifiers

PMID: 22265016
DOI: 10.1016/j.ajhg.2011.12.008
PMCID: PMC3276661

Genes

RHBDF2
EGFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.PMID 22265016Read ↗

[RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer].Semantic proximity Read ↗

Tylosis associated with squamous cell carcinoma of the oesophagus (TOC): Report of an African family with a novel RHBDF2 variant.Semantic proximity Read ↗

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanismsSemantic proximity Read ↗

Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant miceSemantic proximity Read ↗

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.Semantic proximity Read ↗

Pathological mutations reveal the key role of the cytosolic iRhom2 N-terminus for phosphorylation-independent 14-3-3 interaction and ADAM17 binding, stability, and activitySemantic proximity Read ↗

Pathological mutations reveal the key role of the cytosolic iRhom2 N-terminus for phosphorylation-independent 14-3-3 interaction and ADAM17 binding, stability, and activity.Semantic proximity Read ↗

iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility.Semantic proximity Read ↗

Candidate susceptibility variants for esophageal squamous cell carcinoma.Semantic proximity Read ↗

The molecular charaterisation of the Tylosis with Oesophageal Cancer (TOC) minimal region sequenceSemantic proximity Read ↗

Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene.Semantic proximity Read ↗

[Palmoplantar keratosis].Semantic proximity Read ↗

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