Association of Polygenic Score With Tumor Molecular Subtypes in Papillary Thyroid Carcinoma
Authors' conclusion
PGS has molecular subtype-specific associations in PTC, which has implications for their use in risk prediction.
Study context
- Population
- Patients with papillary thyroid carcinoma (PTC) in The Cancer Genome Atlas (TCGA) thyroid cancer study
- Participants
- 359 patients
- Exposure
- Polygenic score (PGS) association with PTC molecular subtypes
- Outcome
- Association of germline genetic risk (10-single-nucleotide variation PGS) with PTC molecular subtypes defined by tumor driver mutation status
Methodological detailsTCGA thyroid cancer data, polytomous logistic regression
- TCGA thyroid cancer data
- Polytomous logistic regression
Main finding
As reported in the abstract
PTC molecular subtype by tumor driver mutation status
- PGS significantly associated with specific tumor molecular subtypes defined by driver mutation status
- Increasing germline risk associated with higher odds of BRAFV600E-mutated PTC vs "other"
- No significant difference in PGS for RAS subtype vs BRAFV600E
Observational data: associations, not effects.
Further findings
Exploratory: Messenger RNA (mRNA)-, microRNA- and DNA methylation-defined molecular subtypes
- PGS also associated with mRNA-, microRNA- and DNA methylation-defined subtypes
- Exploratory analyses
Original publication
Association of Polygenic Score With Tumor Molecular Subtypes in Papillary Thyroid Carcinoma. J Clin Endocrinol Metab. Published 15 July 2023. doi:10. 1210/ clinem/ dgad407
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