Descriptive Genomic Analysis of Ampullary Carcinoma Utilizing the AACR Project GENIE Dataset.

ABSTRACT: Background: Ampullary cancer is a rare biliary tract cancer arising from one of the three epithelial tissues in the region. Leveraging a large patient-level genomic database, this study aims to identify, explore, and describe the genetic landscape of ampullary carcinoma and its implications. Methods: A retrospective analysis of ampullary cancer samples was conducted using the AACR Project GENIE database. Analysis of recurrent somatic mutations at large and between patient populations, and co-occurrence and mutual exclusivity of mutations was conducted, with a p-value < 0.05. Results: The most frequent mutations were identified as TP53 (53.2%), KRAS (46.6%), and SMAD4 (16.6%). Mutational differences were noted between sexes, White vs. Non-whi

SUBMITTER: Martin S 

PROVIDER: S-EPMC12651240 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature