A Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations
Authors' conclusion
Biallelic inactivation of CDC73 is essential for parathyroid tumorigenesis in carriers harboring germline mutations of this gene. Despite sharing some genomic features with adenomas, parathyroid carcinomas have more distinctive alterations in the genome, some of which may be critical for cancer formation.
Study context
- Population
- Parathyroid tumors harboring germline CDC73 mutations and their matched normal tissues
- Participants
- 12 parathyroid tumors
- Comparison
- Parathyroid carcinomas vs adenomas harboring germline CDC73 mutations
- Carcinomasn = 6
- Adenomasn = 6reference
- Outcome
- Second CDC73 allele status and genomic landscapes
Methodological detailswhole-exome and RNA sequencing, matched normal tissues
- Whole-exome and RNA sequencing
- Matched normal tissues
Main finding
As reported in the abstract
Tumors with 1 somatic event predicted to completely inactivate the second CDC73 allele
All 12
Original publication
A Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations. J Clin Endocrinol Metab. Published 24 July 2024. doi:10.
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