Advances in genetic and molecular insights into thyroid disorders: Implications for diagnosis, prognosis, and personalized treatment.
PMID 41224342 | PMCID PMC12625667 | DOI 10.15537/smj.2025.46.11.20250233 · Saudi medical journal · 2025
Thyroid disorders encompass a variety of autoimmune conditions such as Graves' disease, Hashimoto's thyroiditis, as well as several types of thyroid cancer. Recent advancements in next-generation sequencing methodologies have elucidated significant genetic mutations, which include RET, BRAF, TPO, and more, which are associated with thyroid cancers and autoimmune disorders. BRAF V600E mutation as an indicator of prognosis in papillary thyroid carcinoma or the identification of genetic markers clarifies treatment strategies. Similarly, polymorphisms in immune regulatory genes such as CTLA-4, particularly when combined with HLA-DR, are linked to higher risk to autoimmune thyroid diseases. Molecular analysis plays a central role in achieving high diagnostic precision. Emerging molecular profiles offer further insight into the complex nature of these multifactorial conditions. This review highlights the impact of genetic and molecular research on diagnosis and management, highlighting the importance of these approaches for precision medicine in thyroid disorders.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RET | “Recent advancements in next-generation sequencing methodologies have elucidated significant genetic mutations, which include RET, BRAF, TPO, and more, which are associated with thyroid cancers and autoimmune disorders.” | 0.98 | hgnc_dict_v1 |
| gene | BRAF | “Recent advancements in next-generation sequencing methodologies have elucidated significant genetic mutations, which include RET, BRAF, TPO, and more, which are associated with thyroid cancers and autoimmune disorders.” | 0.98 | hgnc_dict_v1 |
| gene | TPO | “Recent advancements in next-generation sequencing methodologies have elucidated significant genetic mutations, which include RET, BRAF, TPO, and more, which are associated with thyroid cancers and autoimmune disorders.” | 0.98 | hgnc_dict_v1 |
| phenotype | thyroid cancer | “Thyroid disorders encompass a variety of autoimmune conditions such as Graves' disease, Hashimoto's thyroiditis, as well as several types of thyroid cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | V600E | “BRAF V600E mutation as an indicator of prognosis in papillary thyroid carcinoma or the identification of genetic markers clarifies treatment strategies.” | 0.82 | literature_variant_regex_v2 |