{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T04:40:02Z","timestamp":1759898402016,"version":"build-2065373602"},"reference-count":21,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T00:00:00Z","timestamp":1759708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"crossref","award":["No. 22-15-00169 (Continuation)."],"award-info":[{"award-number":["No. 22-15-00169 (Continuation)."]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["IJMS"],"abstract":"<jats:p>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\u2122 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.<\/jats:p>","DOI":"10.3390\/ijms26199716","type":"journal-article","created":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T15:05:06Z","timestamp":1759763106000},"page":"9716","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Homologous Recombination in Thyroid Tumor Samples"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5269-736X","authenticated-orcid":false,"given":"Liudmila V.","family":"Spirina","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Biology Division, Siberian State Medical University, 2 Moskovsky Trakt, Tomsk 634050, Russia"},{"name":"Cancer Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 5 Kooperativny Street, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matvey M.","family":"Tsyganov","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Division, Siberian State Medical University, 2 Moskovsky Trakt, Tomsk 634050, Russia"},{"name":"Cancer Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 5 Kooperativny Street, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2974-4778","authenticated-orcid":false,"given":"Svetlana Yu.","family":"Chizhevskaya","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Division, Siberian State Medical University, 2 Moskovsky Trakt, Tomsk 634050, Russia"},{"name":"Cancer Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, 5 Kooperativny Street, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia V.","family":"Tarasenko","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Division, Siberian State Medical University, 2 Moskovsky Trakt, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronika A.","family":"Bogdanova","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Division, Siberian State Medical University, 2 Moskovsky Trakt, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3803\/EnM.2019.34.1.1","article-title":"Genomic Characterization of Differentiated Thyroid Carcinoma","volume":"34","author":"Song","year":"2019","journal-title":"Endocrinol. Metab."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1080\/17446651.2024.2377687","article-title":"Environmental factors related to the origin and evolution of differentiated thyroid cancer: A narrative review","volume":"19","year":"2024","journal-title":"Expert Rev. Endocrinol. Metab."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1002\/gcc.22162","article-title":"Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma","volume":"53","author":"Czajka","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1089\/thy.2011.0117","article-title":"Association of BRCA1 functional single nucleotide polymorphisms with risk of differentiated thyroid carcinoma","volume":"22","author":"Xu","year":"2012","journal-title":"Thyroid"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Xia, Q., Zhao, L.Y., Yan, Y.D., Liao, Y., Di, Y.S., and Xiao, X.Y. (2020). A Multiple Primary Malignancy Patient With FANCA Gene Mutation: A Case Report and Literature Review. Front. Oncol., 10.","DOI":"10.3389\/fonc.2020.01199"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"e70110","DOI":"10.1002\/lio2.70110","article-title":"Mutations in Anaplastic Thyroid Carcinoma: An Analysis of the Japanese National Genomic Database","volume":"10","author":"Nagano","year":"2025","journal-title":"Laryngoscope Investig. Otolaryngol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3892\/mmr.2020.11713","article-title":"PARP inhibitor resistance and TP53 mutations in patients treated with olaparib for BRCA-mutated cancer: Four case reports","volume":"23","author":"Collot","year":"2021","journal-title":"Mol. Med. Rep."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/ijc.35159","article-title":"Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways","volume":"156","author":"Pires","year":"2025","journal-title":"Int. J. Cancer"},{"key":"ref_9","first-page":"16654","article-title":"Genetic predisposition to differentiated thyroid cancer in the Polish population","volume":"134","author":"Borowczyk","year":"2024","journal-title":"Pol. Arch. Intern. Med."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Zhao, S., Wang, Q., Ni, K., Zhang, P., Liu, Y., Xie, J., Ji, W., Cheng, C., and Zhou, Q. (2023). Combining single-cell sequencing and spatial transcriptome sequencing to identify exosome-related features of glioblastoma and constructing a prognostic model to identify BARD1 as a potential therapeutic target for GBM patients. Front. Immunol., 14.","DOI":"10.3389\/fimmu.2023.1263329"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/nature00766","article-title":"Mutations of the BRAF gene in human cancer","volume":"417","author":"Davies","year":"2002","journal-title":"Nature"},{"key":"ref_12","first-page":"4721","article-title":"BRAF mutation in papillary thyroid cancer: Genetic alterations, clinical significance, and therapeutic perspectives","volume":"98","author":"Cohen","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1002\/ohn.373","article-title":"Prognostic Value of Tumor Multifocality in Pediatric Papillary Thyroid Carcinoma: A Real-Life Multicentric Study","volume":"169","author":"Xu","year":"2023","journal-title":"Otolaryngol. Head. Neck Surg."},{"key":"ref_14","first-page":"88","article-title":"Molecular genetics of thyroid cancer: Toward personalized management of patients","volume":"24","author":"Nikiforova","year":"2012","journal-title":"Curr. Opin. Oncol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1159\/000443032","article-title":"Meta-Analyses of Association Between BRAF(V600E) Mutation and Clinicopathological Features of Papillary Thyroid Carcinoma","volume":"38","author":"Zhang","year":"2016","journal-title":"Cell Physiol. Biochem."},{"key":"ref_16","first-page":"375","article-title":"BRAF mutation in thyroid cancer","volume":"14","author":"Xing","year":"2007","journal-title":"Endocr. Relat. Cancer"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1007\/s13277-015-3882-4","article-title":"Association between x-ray repair cross-complementing group 3 (XRCC3) genetic polymorphisms and papillary thyroid cancer susceptibility in a Chinese Han population","volume":"37","author":"Yuan","year":"2016","journal-title":"Tumour Biol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"450","DOI":"10.7150\/ijms.29935","article-title":"Papillary Thyroid Cancer: Genetic Alterations and Molecular Biomarker Investigations","volume":"16","author":"Abdullah","year":"2019","journal-title":"Int. J. Med. Sci."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s10517-020-04830-9","article-title":"Molecular Profiling of Follicular Variant of Papillary Thyroid Cancer","volume":"169","author":"Spirina","year":"2020","journal-title":"Bull. Exp. Biol. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13053-022-00211-7","article-title":"CHEK2 mutations and papillary thyroid cancer: Correlation or coincidence?","volume":"20","author":"Koen","year":"2022","journal-title":"Hered Cancer Clin. Pract."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Hawsawi, Y.M., Shams, A., Theyab, A., Abdali, W.A., Hussien, N.A., Alatwi, H.E., Alzahrani, O.R., Oyouni, A.A.A., Babalghith, A.O., and Alreshidi, M. (2022). BARD1 mystery: Tumor suppressors are cancer susceptibility genes. BMC Cancer, 22.","DOI":"10.1186\/s12885-022-09567-4"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/19\/9716\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T04:19:25Z","timestamp":1759897165000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/19\/9716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,6]]},"references-count":21,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2025,10]]}},"alternative-id":["ijms26199716"],"URL":"https:\/\/doi.org\/10.3390\/ijms26199716","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2025,10,6]]}}}