Genomic landscape of gallbladder cancer: insights from whole exome sequencing.

ABSTRACT:

Background

Gallbladder cancer (GBC) is a common gastrointestinal malignancy noted for its aggressive characteristics and poor prognosis, which is mostly caused by delayed detection. However, the scarcity of information regarding somatic mutations in Indian patients with GBC has hampered the development of efficient therapeutic options. In the present study, the authors attempted to bridge this gap by revealing the mutational profile of GBC.

Materials and methods

To evaluate the somatic mutation profile, whole exome sequencing (WES) was performed on 66 tumor and matched blood samples from individuals with GBC. Somatic variant calling was performed using GATK pipeline. Variants were annotated at pathogenic and oncogenic levels, using ANNOVAR, VEP tools and the OncoKB database.

SUBMITTER: Awasthi S 

PROVIDER: S-EPMC11573093 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature