Colombo Carla, Fugazzola Laura, Muzza Marina, Proverbio Maria Carla, Cirello Valentina
Division of Endocrine and Metabolic Diseases, Istituto Auxologico IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Division of Endocrine and Metabolic Diseases, Istituto Auxologico IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Eur J Med Genet. 2018 Feb;61(2):104-105. doi: 10.1016/j.ejmg.2017.07.012. Epub 2017 Aug 2.
This Journal recently published a study (Kern et al., 2017) reporting the genetic analysis of the whole HABP2 gene in 11 independent kindreds with familial non medullary thyroid cancer (FNMTC). The Authors showed that a new variant (p.R122W) displayed a minor allele frequency (MAF) significantly higher in FNMTC patients than in controls (7.5 vs 0.73%, p = 0.016) and cosegregated with thyroid cancer in one kindred, thus suggesting the need for the evaluation of its possible pathogenicity in other series. We thus analyzed this new HABP2 p.R122W variant in our wide series of 32 unrelated FNMTC Italian kindreds. The variant was not found in any of the 72 affected and 12 not affected family members. In conclusion, the HABP2 was not found in our wide series and it is thus unlikely to be causal to FNMTC. We therefore suggest that careful replication studies should be performed when assessing the possible association between FNMTC risk and any HABP2 variant.
本杂志最近发表了一项研究（克恩等人，2017年），报告了对11个患有家族性非髓样甲状腺癌（FNMTC）的独立家族的整个HABP2基因的遗传分析。作者表明，一种新的变体（p.R122W）在FNMTC患者中的次要等位基因频率（MAF）显著高于对照组（7.5%对0.73%，p = 0.016），并且在一个家族中与甲状腺癌共分离，因此表明需要在其他系列中评估其可能的致病性。因此，我们在我们的32个无关的意大利FNMTC家族的广泛系列中分析了这个新的HABP2 p.R122W变体。在72名受影响和12名未受影响的家庭成员中均未发现该变体。总之，在我们的广泛系列中未发现HABP2，因此它不太可能是FNMTC的病因。因此，我们建议在评估FNMTC风险与任何HABP2变体之间的可能关联时，应进行仔细的重复研究。
