PDPR gene variants predisposing to papillary thyroid cancer

CONCLUSIONS: Our finding of novel truncating germline variants in PDPR in family Q and additional cohorts suggests a role for PDPR loss in PTC predisposition. Also, somatic and RNA-sequencing from the Thyroid carcinoma (Firehouse Legacy) data showed that PDPR gene expression is much lower in thyroid cancer tumor tissue compared to matching normal tissue. Thus, PDPR appears to have a loss of function effect on thyroid cancer tumorigenesis.PMID:38062777 | DOI:10.1089/thy.2023.0560

Source: Thyroid : official journal of the American Thyroid Association - December 8, 2023 Category: Endocrinology Authors: Pamela Brock Myriam S évigny Sandya Liyanarachchi Daniel F Comiskey Wei Li Saila Saarinen Ayse Selen Yilmaz Anni Irmeli I Nieminen Matthew D Ringel Paivi Peltomaki Saara Ollila Taina Tuulikki Nieminen Source Type: research