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Article

Association Between JAK2 V617F Somatic Mutation and Thoracic Aortic Aneurysms.

Genes - 24 Mar 2026

Collins Simon, Zafar Mohammad A, Elefteriades John A

Abstract excerpt

Background/Objectives: Thoracic aortic aneurysms have long been associated with germline mutations such as FBN1, TGFBR2, and COL3A1, which predispose to Marfan, Loeys-Dietz, and Ehlers-Danlos syndromes, respectively. However, recent research has identified a correlation between the JAK2 V617F somatic mutation and thoracic aortic aneurysm formation. This review aims to synthesize the current evidence on the...

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Topics

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Share to Gene Frequency
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Share to Aortic Aneurysm, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42074482
DOI: 10.3390/genes17040364
PMCID: PMC13116745

Genes

JAK2
COL3A1
FBN1
TGFBR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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