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The novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development.

Genes, chromosomes & cancer - 1 Dec 2021

Meir Michael, Maurus Katja, Kuper Jochen, Hankir Mohammed, Wardelmann Eva, Rosenwald Andreas, Germer Christoph-Thomas, Wiegering Armin

Abstract excerpt

Familial gastrointestinal stromal tumors (GIST) are dominant genetic disorders that are caused by germline mutations of the type III receptor tyrosine kinase KIT. While sporadic mutations are frequently found in mastocytosis and GISTs, germline mutations of KIT have only been described in 39 families until now. We detected a novel germline mutation of KIT in exon 11 (p.Lys-558-Asn; K558N) in a patient from a...

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PMID: 34338390
DOI: 10.1002/gcc.22988

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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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