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

Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.

Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Feb 2004

Robson Mark E, Glogowski Emily, Sommer Gunhild, Antonescu Cristina R, Nafa Khedoudja, Maki Robert G, Ellis Nathan, Besmer Peter, Brennan Murray, Offit Kenneth

Abstract excerpt

PURPOSE: Somatic mutations that result in the activation of the growth factor receptor KIT are commonly found in gastrointestinal stromal tumors (GISTs). Six families have been reported in which a germ-line mutation in KIT is associated with an autosomal dominant predisposition to the development...

Read the complete abstract on PubMed

Topics

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

Share to Age Factors
Share to Cell Membrane

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deglutition Disorders

Share to Family Health

Share to Gastrointestinal Neoplasms

Share to Germ-Line Mutation

Share to Hyperpigmentation

Share to Proto-Oncogene Proteins c-kit

Source

Identifiers

PMID: 14977822
DOI: 10.1158/1078-0432.ccr-03-0110

Genes

KIT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14977822-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.PMID 14977822Read ↗

Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosaSemantic proximity Read ↗

Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?Semantic proximity Read ↗

Familial Gastrointestinal Stromal Tumor Syndrome: Phenotypic and Molecular Features in a KindredSemantic proximity Read ↗

Gastrointestinal stromal tumors: insights from a new familial GIST kindred with unusual genetic and pathologic features.Semantic proximity Read ↗

Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review.Semantic proximity Read ↗

Cutaneous Hyperpigmentation and Familial Gastrointestinal Stromal Tumor Associated with Germline KIT Mutation Treated with ImatinibSemantic proximity Read ↗

Cutaneous Hyperpigmentation and Familial Gastrointestinal Stromal Tumor Associated With Germline KIT Mutation Treated With Imatinib: A Chinese Case ReportSemantic proximity Read ↗

Familial gastrointestinal stromal tumor with hyperpigmentation: Association with a germline mutation of the c-kit geneSemantic proximity Read ↗

Remarkable effects of imatinib in a family with young onset gastrointestinal stromal tumors and cutaneous hyperpigmentation associated with a germline KIT-Trp557Arg mutation: case report and literature overview.Semantic proximity Read ↗

Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumorSemantic proximity Read ↗

Familial gastrointestinal stromal tumor with Fingers with zebra-like pigmentationSemantic proximity Read ↗

Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implicationsSemantic proximity Read ↗

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