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Abstract：
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.
摘要：
家族性非甲状腺髓样癌（FNMTC）是一种以遗传易感性为特征的甲状腺癌，约占所有非甲状腺髓样癌的5%。虽然FNMTC的一些病例与家族性多器官肿瘤易感性综合征有关，大多数是独立发生的。非综合征FNMTC的遗传机制尚不清楚。最初的研究利用SNP连锁分析来确定易感性基因座，包括1q21基因座，2q21基因座，和4q32基因座，在其他人中。随后的研究采用了更先进的技术，如全基因组关联研究和全外显子组测序，导致基因如IMMP2L的发现，GALNTL4、WDR11-AS1、DUOX2、NOP53、MAP2K5等。但是FNMTC表现出强烈的遗传异质性，每个家族都有自己的致病基因。这是第一篇提供与非综合征FNMTC相关的易感基因的染色体景观图谱并分析其潜在关联的文章。它还提供了一个详细的总结变异位点，特点,研究方法,以及来自不同国家的验证结果。
