Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing
Authors' conclusion
Our results implicate the first germline variant in RET in a family with NMTC as well as the first germline variants in PTGIR, GALNT10, and UBN1 in TC.
Study context
- Population
- Affected and unaffected members of an Italian non-medullary thyroid cancer (NMTC) familyone family
- Outcome
- Prioritized possibly pathogenic germline variants
Methodological detailssingle family, in silico variant prioritization
- Single family
- In silico variant prioritization
Main finding
As reported in the abstract
Coding variants prioritized by FCVPPv2
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Original publication
Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing. Eur J Endocrinol. Published 3 April 2025. doi:10.
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