Department of Medicine, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Department of Surgery, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Endocr Pathol. 2020 Mar;31(1):14-20. doi: 10.1007/s12022-020-09607-4.
Thyroid cancer, predominantly of papillary histology (PTC), is a common cancer mostly diagnosed sporadically. Hereditary PTC is encountered in ~ 5% of cases and may present at an earlier age, with greater risks of metastasis and recurrence, compared with sporadic cases. The molecular basis of hereditary PTC is unknown in most cases. In this study, the genetic basis of hereditary PTC in three Brazilian families was investigated. Whole exome sequencing (WES) was carried out for probands in each family, and validated, pathogenic/likely pathogenic sequence variants (P/LPSVs) were genotyped in additional family members to establish their putative pathogenic role. Overall, seven P/LPSVs in seven novel genes were detected: p.D283NANXA3, p.Y157SNTN4, p.G172WSERPINA1, p.G188SFKBP10, p.R937CPLEKHG5, p.L32QP2RX5, and p.Q76*SAPCD1. These results indicate that these novel genes are seemingly associated with hereditary PTC, but extension and validation in other PTC families are required.
甲状腺癌，主要为乳头状组织学（PTC），是一种常见的癌症，主要是偶发性诊断。遗传性 PTC 在约 5%的病例中遇到，与散发性病例相比，其转移和复发的风险更高，发病年龄更早。在大多数情况下，遗传性 PTC 的分子基础尚不清楚。在这项研究中，研究了三个巴西家庭的遗传性 PTC 的遗传基础。对每个家庭的先证者进行了全外显子组测序（WES），并对其他家庭成员进行了验证，致病性/可能致病性序列变异（P/LPSVs）的基因分型，以确定其潜在的致病作用。总的来说，在七个新基因中检测到七个 P/LPSVs：p.D283NANXA3、p.Y157SNTN4、p.G172WSERPINA1、p.G188SFKBP10、p.R937CPLEKHG5、p.L32QP2RX5 和 p.Q76*SAPCD1。这些结果表明，这些新基因似乎与遗传性 PTC 有关，但需要在其他 PTC 家族中进行扩展和验证。
