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Article

CASP9 germline mutation in a family with multiple brain tumors.

Brain pathology (Zurich, Switzerland) - 1 Jan 2018

Ronellenfitsch Michael W, Oh Ji-Eun, Satomi Kaishi, Sumi Koichiro, Harter Patrick N, Steinbach Joachim P, Felsberg Jörg, Capper David, Voegele Catherine, Durand Geoffroy, McKay James, Le Calvez-Kelm Florence, Schittenhelm Jens, Klink Barbara, Mittelbronn Michel, Ohgaki Hiroko

Abstract excerpt

We report a novel CASP9 germline mutation that may increase susceptibility to the development of brain tumors. We identified this mutation in a family in which three brain tumors had developed within three generations, including two anaplastic astrocytomas occurring in cousins. The cousins were diagnosed at similar ages (29 and 31 years), and their tumors showed similar histological features. Genetic analysis...

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Source

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Identifiers

PMID: 27935156
DOI: 10.1111/bpa.12471
PMCID: PMC8028618

Genes

CASP9
IDH1

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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