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Article

Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs).

Journal of medical genetics - 24 Sept 2024

Moura David S, López López Daniel, di Lernia Davide, Martin-Ruiz Marta, Lopez-Alvarez Maria, Ramos Rafael, Merino Jose, Dopazo Joaquin, Lopez-Guerrero Jose, Mondaza-Hernandez Jose L, Romero Pablo, Hindi Nadia, Garcia-Foncillas Jesus, Martin-Broto Javier

Abstract excerpt

BACKGROUND: Gastrointestinal stromal tumours (GISTs) are prevalent mesenchymal tumours of the gastrointestinal tract, commonly exhibiting structural variations in KIT and PDGFRA genes. While the mutational profiling of somatic tumours is well described, the genes behind the susceptibility to develop GIST are not yet fully discovered. This study explores the genomic landscape of two primary GIST cases, aiming to...

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Topics

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Share to DNA Copy Number Variations
Share to Gastrointestinal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gastrointestinal Stromal Tumors

Share to Germ-Line Mutation

Share to Polymorphism, Single Nucleotide

Share to Proto-Oncogene Proteins c-kit

Share to Receptor, Platelet-Derived Growth Factor alpha

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 39153853
DOI: 10.1136/jmg-2024-110109

Genes

CFHR1
CFHR3
KIT
PDGFRA
SLC25A24

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.

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