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Medical Genetics service

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Operating unit of Endocrinology

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Operating unit of Bioinformatics

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Our Mission and Vision

Hyperparathyroidism with Jaw-Tumour Syndrome is a rare cancer disease caused by inactivating mutations of the tumour suppressor CDC73 gene. So far more than 126 different genetic lesions (coding germline or somatic mutations, LOH, large deletions) have been reported in less than 83 families and 91 sporadic cases.

We exhaustively screened all the papers reporting a CDC73 genetic mutation (last update: June 2016) and collected all the available clinical, biochemical, histological information of the proband as well as of each relative (in case of familial form) along with the genetic data.

Aim of this database is to (i) provide a detailed organization for a fruitful utilization of all the data so far available on this topic; (ii) to give the researcher and clinician with a large scale vision of the problem; (iii) to easily verify if a CDC73 genetic variant has yet been identified, and/or its association to a specific type of parathyroid lesion and the clinical and biochemical parameter.

Depending on the use, you may interrogate the database for type of mutation, or histology, disease, biochemical value and so on or, alternatively, you may download all the data in a unique batch file. The database will be updated every 6 months: next release is planned in June 2017.

Disclaimer

All data reported have been retrieved from published papers and are intended for research purposes only. Different algorithms used to deduce the pathogenicity of the annotated variants have not any definitive clinical or prognostic value, but only a statistically scored significance. Any other use (clinical, prognostic or diagnostic purpose) are on the responsibility of the user.

The present database is a collection of published information, in some cases, private data are present, whose publication by the user is subjected to the authorization of the database curators.

In respect of the work made to create this database, should you publish using the information here reported, we kindly ask to give us credits mentioning: The CDC73db, available at: http://cdc73.css-mendel.it