Letter regarding the article: “Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of “thyroid-checked” controls” by Kern et al

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 hig...

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Bibliographic Details
Published in:European journal of medical genetics 2018-02, Vol.61 (2), p.104-105
Main Authors: Colombo, Carla, Fugazzola, Laura, Muzza, Marina, Proverbio, Maria Carla, Cirello, Valentina
Format: Article
Language:English
Subjects:
Familial
HABP2
Nonmedullary thyroid cancer
Thyroid cancer
Variant
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Summary: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 HABP2R122W 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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2017.07.012