Homologous Recombination in Thyroid Tumor Samples

TL;DR

This study explores the role of homologous recombination genes in thyroid tumors, finding some gene mutations linked to cancer recurrence but not to cancer development.

Contribution

The study identifies specific gene mutations in thyroid tumors and their potential association with recurrence, offering new insights into thyroid cancer prognosis.

Findings

Mutations in BRCA1, BRCA2, and FANCA genes were found in papillary thyroid cancer tissue.

A statistically significant correlation was found between FANCA gene mutation rs7195066 and PTC recurrence.

No major role for homologous recombination repair genes in the development of papillary thyroid carcinoma was observed.

Abstract

Genomic studies have provided key insights into the molecular pathogenesis of differentiated thyroid carcinoma (DTC), including the role of genes involved in the homologous recombination (HR) related to DNA repair and genomic stability. This research aimed to investigate the genetic landscape of HR genes in thyroid pathology, associated with recurrence risk and clinical prognosis. The study involved six individuals with thyroid conditions, including two patients diagnosed with papillary thyroid carcinoma (PTC) and four individuals with benign thyroid disease. The research material consisted of tumor samples collected during surgical procedures. Protein interactions were analyzed using the STRING database (string-db.org). Homologous recombination genes were sequenced using the HRR Panel vr1.0 on the MiSeq™ Sequencing System. Bioinformatics analysis revealed a relationship between BRAF mutations and HR gene defects in PTC. Mutations in BRCA1, BRCA2, and FANCA genes, typically associated with thyroid tumors, were identified in the tissue of papillary thyroid cancer (PTC). A statistically significant correlation was found between the FANCA gene mutation (rs7195066) and the recurrent course of the PTC. The preliminary findings suggest a potential role for non-pathogenic BARD1 mutations in follicular adenoma. No significant association was found between genes involved in homologous recombination repair and the incidence of papillary thyroid carcinoma, suggesting that these genes may not play a major role in the development of this type of thyroid cancer.

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