ArticleJournal of the Endocrine Society2017
Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.
Article in Journal of the Endocrine Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Multiple endocrine neoplasia type 1 withJCEM case reports · 2026Article
- Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.European journal of endocrinology · 2025Article
- Genetics of monogenic disorders of calcium and bone metabolism.Clinical endocrinology · 2022Review
- Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.Hormones & cancer · 2020Article
- A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a NewJournal of the Endocrine Society · 2019Article
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
- First-positive surveillance screening in an asymptomatic SDHA germline mutation carrierEndocrinology, diabetes & metabolism case reports · 2019Article
- Discovery of new susceptibility genes: proceed cautiously.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Article
- Pathogenicity and Penetrance of GermlineJournal of the Endocrine Society · 2018Article
- Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing.Case reports in oncologyArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
contextGenetic testing is increasingly used for clinical diagnosis, although variant interpretation presents a major challenge because of high background rates of rare coding-region variation, which may contribute to inaccurate estimates of variant pathogenicity and disease penetrance.
objectiveTo use the Exome Aggregation Consortium (ExAC) data set to determine the background population frequencies of rare germline coding-region variants in genes associated with hereditary endocrine disease and to evaluate the clinical utility of these data. DESIGN SETTING
participantsCumulative frequencies of rare nonsynonymous single-nucleotide variants were established for 38 endocrine disease genes in 60,706 unrelated control individuals. The utility of gene-level and variant-level metrics of tolerability was assessed, and the pathogenicity and penetrance of germline variants previously associated with endocrine disease evaluated.
resultsThe frequency of rare coding-region variants differed markedly between genes and was correlated with the degree of evolutionary conservation. Genes associated with dominant monogenic endocrine disorders typically harbored fewer rare missense and/or loss-of-function variants than expected.
conclusionsQuantifying the frequency and spectrum of rare variation using population-level sequence data facilitates improved estimates of variant pathogenicity and penetrance and should be incorporated into the clinical decision-making algorithm when undertaking genetic testing.
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