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Article

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.

European journal of human genetics : EJHG - 1 Jul 2021

Whitworth James, Casey Ruth T, Smith Philip S, Giger Olivier, Martin Jose Ezequiel, Clark Graeme, Cook Jaqueline, Fernando Marlee S, Taniere Phillipe, Maher Eamonn R

Abstract excerpt

Gastrointestinal stromal tumour (GIST) is a mesenchymal neoplasm arising in the gastrointestinal tract. A rare subset of GISTs are classified as wild-type GIST (wtGIST) and these are frequently associated with germline variants that affect the function of cancer predisposition genes such as the succinate dehydrogenase subunit genes (SDHA, SDHB, SDHC, SDHD) or NF1. However, despite this high heritability, familial...

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Identifiers

PMID: 33854214
DOI: 10.1038/s41431-021-00862-5
PMCID: PMC8298530

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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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