Pyruvate Dehydrogenase Phosphatase Regulatory (PDPR) Gene Variants Predisposing to Papillary Thyroid Cancer
Authors' conclusion
Our finding of novel truncating germline variants in PDPR in Family Q and additional cohorts suggests a role for PDPR loss in PTC predisposition.
Study context
- Population
- One autosomal dominant papillary thyroid cancer (PTC) family (Family Q; 3 PTC-affected individuals with whole-genome sequencing) from 17 autosomal dominant (AD) PTC families; 323 sporadic thyroid cancer (THCA) cases (Avatar data); 12 familial adenomatous polyposis (FAP) individuals with secondary THCA
- Outcome
- PDPR variants and metabolic consequences of PDPR loss
Methodological detailswhole-genome sequencing, CRISPR-Cas9 cell models
- Whole-genome sequencing
- CRISPR-Cas9 cell models
Main finding
As reported in the abstract
- Truncating PDPR splice donor variant (NM_017990.4:c.361 + 1G>C) in all affected Family Q members
- Another PDPR splice donor variant (NM_017990.4:c.443 + 1G>C) in a sporadic PTC case
- Ultra-rare missense variant in an FAP-PTC patient
- PDPR-deficient cells: elevated phosphorylation of pyruvate dehydrogenase and altered glucose metabolism
Further findings
PDPR gene expression in THCA tumor vs matching normal tissue (Firehouse Legacy data)
- PDPR expression much lower in THCA tumor tissue than matching normal tissue
Original publication
PDPR Gene Variants Predisposing to Papillary Thyroid Cancer. Thyroid. Published 10 January 2024. doi:10.
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