Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.

ABSTRACT: Background: African American (AA) thyroid cancer patients have worse prognoses than European Americans (EA), which has been attributed to both health care disparities and possible genetic differences. We investigated the impact of both germ line and somatic variants on clinical outcome in a cohort of AA nonmedullary thyroid cancer (NMTC) patients who had received therapeutic intervention from cancer centers. Methods: Whole-exome sequencing was performed on DNA from available blood/normal tissues (N = 37) and paired tumor samples (N = 32) collected from 37 and 29 AA NMTC patients, respectively. Variants with Combined Annotation Depletion Dependent (CADD) score of ≥20 and VarSome Clinical classification of likely pathogenic or pathogenic were classif

SUBMITTER: Hurst ZA 

PROVIDER: S-EPMC10951570 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature