Low-Allele-Frequency Somatic Variants in a Cohort of Sporadic Saccular "Berry" Cerebral Aneurysms.

ABSTRACT:

Background

Subarachnoid hemorrhage from ruptured saccular intracranial aneurysms (IAs) is fatal in ≈50% of cases. Significant effort has been devoted to identifying the molecular pathogenesis of IAs to develop new therapies to treat or halt the progression of IAs.

Methods

Paired deep whole-exome sequencing was performed on the walls of sporadic IAs in a discovery set of 11 sporadic IAs from 10 unrelated patients and matching peripheral blood DNA. Somatic alterations unique to the IA tissue were characterized. Variants were validated with gene-targeted deep next-generation sequencing. The genetic landscape of a validation cohort of 68 IAs was analyzed by targeted deep sequencing of all altered genes detected in the discovery cohort as well as other genes associated with aneur

SUBMITTER: Karasozen Y 

PROVIDER: S-EPMC12554418 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature