Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer
Authors' conclusion
The reported prevalence (13%) of germline variants in well-known tumor predisposing genes and the added value of a revised personal/family history and histology led us to recommend genetic counseling for all patients with childhood NMTC. The detected tumor predisposition syndromes are associated with a risk for second cancers which necessitates additional surveillance of the index patients and presymptomatic genetic testing of at risk family members.
Study context
- Population
- Patients diagnosed with pediatric nonmedullary thyroid cancer (NMTC) between 1970 and 2020
- Participants
- 97 patients
- Outcome
- Mutation detection yield in (1) clinically relevant tumor predisposition genes and (2) genes previously associated with NMTC
Methodological detailsnationwide, tertiary referral centers, germline whole genome sequencing
- Nationwide
- Tertiary referral centers
- Germline whole genome sequencing
Main finding
As reported in the abstract
Germline (likely) pathogenic variant in a well-known tumor predisposition gene
- Carriers of a germline (likely) pathogenic variant in a well-known tumor predisposition gene
- 13 of 97 patients (13%)
- APC
- n = 1
- BRCA2
- n = 2
- CHEK2
- n = 4
- DICER1
- n = 4
- HOXB13
- n = 1
- MITF
- n = 1
Observational data: associations, not effects.
Further findings
- Pendred syndrome (SLC26A4)
- 1 patient
- Variants of high interest in other NMTC candidate susceptibility genes
- 9
Original publication
Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer. J Clin Endocrinol Metab. Published 28 February 2024. doi:10.
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