ArticleThe Journal of clinical endocrinology and metabolism2016
The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.
Article in The Journal of clinical endocrinology and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.Neuroendocrinology · 2025Article
- Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.Frontiers in oncology · 2024Review
- Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022Review
- Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.Frontiers in endocrinology · 2022Review
- Non-medullary Thyroid Cancer Susceptibility Genes: Evidence and Disease Spectrum.Annals of surgical oncology · 2021Article
- BROX haploinsufficiency in familial nonmedullary thyroid cancer.Journal of endocrinological investigation · 2021Article
- An update on familial nonmedullary thyroid cancer.Endocrine · 2020Review
- Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer.Hormones & cancer · 2020Article
- Germline Mutations in Familial Papillary Thyroid Cancer.Endocrine pathology · 2020Article
- Clinical and Genetic Features of a Large Monocentric Series of Familial Non-Medullary Thyroid Cancers.Frontiers in endocrinology · 2020Article
- Article
- Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.Genes · 2019Review
- Targeted next-generation sequencing in papillary thyroid carcinoma patients looking for germline variants predisposing to the disease.Endocrine · 2019Article
- The p.G534E variant ofOncotarget · 2017Article
- Next Generation Sequencing and Association Studies in Familial Nonmedullary Thyroid Carcinoma: Let's Choose Appropriate Controls.European thyroid journal · 2017Article
- HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.Oncotarget · 2017Article
- Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer.NPJ genomic medicine · 2017Article
- The impact of family history on non-medullary thyroid cancer.European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology · 2016Review
- HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.BMC medical genetics · 2016Article
- RE: HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer.Journal of the National Cancer Institute · 2016Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
contextA recent study reported the non-synonymous G534E (rs7080536, allele A) variant in the HABP2 gene as causal in familial non-medullary thyroid cancer (NMTC).
objectiveThe objective of this study was to evaluate the causality of HABP2 G534E in the TCUKIN study, a multi-center population based study of NMTC cases from the British Isles. DESIGN AND
settingA case-control analysis of rs7080536 genotypes was performed using 2,105 TCUKIN cases and 5,172 UK controls.
participantsCases comprised 2,105 NMTC cases. Patients sub-groups with papillary (N=1,056), follicular (N=691) and Hurthle cell (N=86) TC cases were studied separately. Controls comprised 5,172 individuals from the 1958 Birth Cohort (58C) and the National Blood Donor Service (NBS) study. The controls had previously been genotyped using genome-wide SNP arrays by the Wellcome Trust Case Control Consortium study. OUTCOME: Measures: Association between HABP2 G534E (rs7080536A) and NMTC risk was evaluated using logistic regression.
resultsThe frequency of HABP2 G534E was 4.2% in cases and 4.6% in controls. We did not detect an association between this variant and NMTC risk (OR=0.896, 95% CI: 0.746-1.071, P=0.233). We also failed to detect an association between HABP2 G534E and cases with papillary (1056 cases, G534E frequency= 3.5%, OR=0.74, P=0.017), follicular (691 cases, G534E frequency= 4.7%, OR=1.00, P=1.000) or Hurthle cell (86 cases, G534E frequency= 6.3%, OR=1.40, P=0.279) histology.
conclusionsWe found that HABP2 G534E is a low-to-moderate frequency variant in the British Isles and failed to detect an association with NMTC risk, independent of histological type. Hence, our study does not implicate HABP2 G534E or a correlated polymorphism in familial NMTC and additional data are required before using this variant in NMTC risk assessment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.