Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer
Familial non-medullary thyroid carcinoma (FNMTC) is a type of thyroid cancer characterized by genetic susceptibility, representing approximately 5% of all non-medullary thyroid carcinomas. While some cases of FNMTC are associated with familial multi-organ tumor predisposition syndromes, the majority...
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Frontiers Media S.A.
2024-03-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2024.1286426/full |
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| author | Yu-jia Jiang Yun Xia Yun Xia Zhuo-jun Han Yi-xuan Hu Tao Huang |
| author_facet | Yu-jia Jiang Yun Xia Yun Xia Zhuo-jun Han Yi-xuan Hu Tao Huang |
| author_sort | Yu-jia Jiang |
| collection | DOAJ |
| description | Familial non-medullary thyroid carcinoma (FNMTC) is a type of thyroid cancer characterized by genetic susceptibility, representing approximately 5% of all non-medullary thyroid carcinomas. While some cases of FNMTC are associated with familial multi-organ tumor predisposition syndromes, the majority occur independently. The genetic mechanisms underlying non-syndromic FNMTC remain unclear. Initial studies utilized SNP linkage analysis to identify susceptibility loci, including the 1q21 locus, 2q21 locus, and 4q32 locus, among others. Subsequent research employed more advanced techniques such as Genome-wide Association Study and Whole Exome Sequencing, leading to the discovery of genes such as IMMP2L, GALNTL4, WDR11-AS1, DUOX2, NOP53, MAP2K5, and others. But FNMTC exhibits strong genetic heterogeneity, with each family having its own pathogenic genes. This is the first article to provide a chromosomal landscape map of susceptibility genes associated with non-syndromic FNMTC and analyze their potential associations. It also presents a detailed summary of variant loci, characteristics, research methodologies, and validation results from different countries. |
| first_indexed | 2024-04-24T22:23:11Z |
| format | Article |
| id | doaj.art-0c9afb02e5584b79b26115d7399d06f1 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-24T22:23:11Z |
| publishDate | 2024-03-01 |
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| series | Frontiers in Oncology |
| spelling | doaj.art-0c9afb02e5584b79b26115d7399d06f12024-03-20T04:43:57ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2024-03-011410.3389/fonc.2024.12864261286426Chromosomal localization of mutated genes in non-syndromic familial thyroid cancerYu-jia Jiang0Yun Xia1Yun Xia2Zhuo-jun Han3Yi-xuan Hu4Tao Huang5Department of Breast and Thyroid Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaHubei Bioinformatics and Molecular Imaging Key Laboratory, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, ChinaWest China Biomedical Big Data Center, West China Hospital, Sichuan University, Chengdu, ChinaDepartment of Breast and Thyroid Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Breast and Thyroid Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Breast and Thyroid Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaFamilial non-medullary thyroid carcinoma (FNMTC) is a type of thyroid cancer characterized by genetic susceptibility, representing approximately 5% of all non-medullary thyroid carcinomas. While some cases of FNMTC are associated with familial multi-organ tumor predisposition syndromes, the majority occur independently. The genetic mechanisms underlying non-syndromic FNMTC remain unclear. Initial studies utilized SNP linkage analysis to identify susceptibility loci, including the 1q21 locus, 2q21 locus, and 4q32 locus, among others. Subsequent research employed more advanced techniques such as Genome-wide Association Study and Whole Exome Sequencing, leading to the discovery of genes such as IMMP2L, GALNTL4, WDR11-AS1, DUOX2, NOP53, MAP2K5, and others. But FNMTC exhibits strong genetic heterogeneity, with each family having its own pathogenic genes. This is the first article to provide a chromosomal landscape map of susceptibility genes associated with non-syndromic FNMTC and analyze their potential associations. It also presents a detailed summary of variant loci, characteristics, research methodologies, and validation results from different countries.https://www.frontiersin.org/articles/10.3389/fonc.2024.1286426/fullthyroid carcinomafamilial non-medullary thyroid carcinomachromosomal locusGWASWESgenetic mutation |
| spellingShingle | Yu-jia Jiang Yun Xia Yun Xia Zhuo-jun Han Yi-xuan Hu Tao Huang Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer Frontiers in Oncology thyroid carcinoma familial non-medullary thyroid carcinoma chromosomal locus GWAS WES genetic mutation |
| title | Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer |
| title_full | Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer |
| title_fullStr | Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer |
| title_full_unstemmed | Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer |
| title_short | Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer |
| title_sort | chromosomal localization of mutated genes in non syndromic familial thyroid cancer |
| topic | thyroid carcinoma familial non-medullary thyroid carcinoma chromosomal locus GWAS WES genetic mutation |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2024.1286426/full |
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