Familial non-medullary thyroid carcinoma (FNMTC) is de fi ned as the presence of two or more affected fi rst-degree relatives with non-medullary thyroid cancers without other known familial syndromes. FNMTC is one of the most inheritable forms of all cancers, with a high risk of a first-degree relative developing the disease. Compared with sporadic non-medullary thyroid carcinoma (NMTC), FNMTC presents at a younger age and is associated with a higher incidence of multifocal disease and metastasis. This in-creased aggressiveness has been hypothesized to translate into higher recurrence rates and decreased survival of patients with FNMTC. The genes involved in the pathogenesis of FNMTC are yet to be elucidated, although some recent studies identified several predisposi-tion loci with a high degree of genetic heterogeneity. Since 2005, next-generation sequencing (NGS) technologies have been developing as rapid, high-throughput, and cost-effective approaches to fulfill medical sciences and research demands. With the use of NGS, the un-derlying causative genes can be directly distinguished via systematic filtering, through which the identified gene variants are verified for novelty and functionality.%家族性非髓样甲状腺癌为一级亲属中有2例或2例以上甲状腺滤泡上皮细胞起源的甲状腺癌患者的家族，并排除甲状腺癌致病因素暴露史。家族性非髓样甲状腺癌是一种常见的肿瘤性遗传病。与散发性非髓样甲状腺癌相比，家族性非髓样甲状腺癌发病年龄更低，发病率更高且转移率更高。因此，一般认为家族性非髓样甲状腺癌的预后更差。尽管已有部分报道，但家族性非髓样甲状腺癌的致病基因尚未明确。全基因组外显子测序技术以其快速、高通量以及低成本而被广泛应用，因此适用于寻找家族性非髓样甲状腺癌的致病基因或易感基因。
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