Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer
Authors' conclusion
In this cohort, most AA-NMTC patients exhibit favorable outcomes after therapeutic intervention given at cancer centers, suggesting that health care disparity is the major contributor for worse prognoses among AA-NMTC patients.
Study context
- Population
- African American nonmedullary thyroid cancer (NMTC) patients who received therapeutic intervention at cancer centers29 with tumor samples
- Participants
- 37 participants
- Outcome
- Presumed pathogenic germ line and somatic variants (PPGVs/PPSVs)
Methodological detailswhole-exome sequencing, germ line and paired tumor samples, PPGV/PPSV: Combined Annotation Depletion Dependent (CADD) score ≥20 and VarSome likely pathogenic or pathogenic
- Whole-exome sequencing
- Germ line and paired tumor samples
- PPGV/PPSV: CADD score ≥20 and VarSome likely pathogenic or pathogenic
Main finding
As reported in the abstract
PPGVs identified in 16 cancer predisposition or cancer-related genes
17
BRAFV600E, most prevalent PPSV: tumors
12 of the 29
41%
Original publication
Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer. Thyroid. Published 7 December 2023. doi:10.
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