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Article

Cancer-type somatic mutations in saccular cerebral aneurysms.

European journal of human genetics : EJHG - 1 Aug 2025

Rezai Jahromi Behnam, Valori Miko, Tulamo Riikka, Jauhiainen Suvi, Ilmonen Henna, Kantonen Jonas, Kaikkonen-Määttä Minna, Laakso Aki, Ylä-Hertuala Seppo, Jääskeläinen Juha E, Tienari Pentti J, Niemelä Mika

Abstract excerpt

Intracranial aneurysms (IAs) are a major cause of subarachnoidal hemorrhage (SAH) which can have a significant morbidity and mortality. The processes underlying the aneurysm development remains unclear. We performed whole exome sequencing of DNA derived from 20 saccular cerebral aneurysms of 20 patients, followed by somatic variant calling. Eleven (55%) of the 20 patients had detectable nonsynonymous somatic...

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Identifiers

PMID: 39668185
DOI: 10.1038/s41431-024-01765-x
PMCID: PMC12322075

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PDGFRB

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