Publications by authors named "Jacquelin Bui-Griffith"

Article Synopsis
  • Radiation exposure may be linked to the development of medullary thyroid cancer, but no previous studies have examined its oncogenic events in affected populations.
  • In this study, researchers analyzed tissue samples from 49 individuals affected by thyroid cancer post-Chernobyl, identifying various germline RET mutations and sporadic cancer cases with RET-related alterations.
  • The findings indicate a notable prevalence of hereditary mutations and suggest that radiation exposure does not significantly impact tumor characteristics or age at diagnosis in sporadic cases.
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Purpose: Anaplastic thyroid cancer (ATC) is a deadly form of thyroid cancer. V600E is the only actionable mutation for which there is a Food and Drug Administration-approved drug combination. Rapid detection of V600E and initiation of therapy is critical.

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Medullary thyroid carcinoma (MTC), an aggressive form of thyroid cancer, occurs sporadically in approximately 75% of MTCs. and mutations play a role in about 40% and 15%, respectively, of sporadic MTCs and are predominant drivers in MTC pathways. These mutations are some of the most comprehensively described and screened for in MTC patients; however, in recent studies, other mutations in the gene (p18) have been implicated in the tumorigenesis of MTC.

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