Year: 2025
Type: article
Abstract: ABSTRACT 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.
Source: Saudi Medical Journal
Author: Faez F. Alshehri
Institution: Shaqra University
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
Funder: Shaqra University
OpenAlex ID: W4416439028