ArticleBMC medical genetics2016
HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.
Article in BMC medical genetics, 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, 35 citations in OpenAlex.
- Article
- 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
- Familial non-medullary thyroid cancer: a critical review.Journal of endocrinological investigation · 2021Review
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- BROX haploinsufficiency in familial nonmedullary thyroid cancer.Journal of endocrinological investigation · 2021Article
- Diagnostic and prognostic value of HABP2 as a novel biomarker for endometrial cancer.Annals of translational medicine · 2020Article
- 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
- Clinical and Genetic Features of a Large Monocentric Series of Familial Non-Medullary Thyroid Cancers.Frontiers in endocrinology · 2020Article
- Article
- Targeted next-generation sequencing in papillary thyroid carcinoma patients looking for germline variants predisposing to the disease.Endocrine · 2019Article
- How many cases of disease in a pedigree imply familial disease?Annals of human genetics · 2018Article
- 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
- HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series.Journal of endocrinological investigation · 2017Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundThe genetic basis of nonsyndromic familial nonmedullary thyroid cancer (FNMTC) is poorly understood. A recent study identified HABP2 as a tumor suppressor gene and identified a germline variant (G534E) in an extended FNMTC kindred. The relevance of this to other FNMTC kindreds is uncertain.
methodsSanger sequencing was performed on peripheral blood DNA from probands from 37 Australian FNMTC kindreds to detect the G534E variant. Whole exome data from 59 participants from 20 kindreds were examined for mutations in HABP2 and the thyroid cancer susceptibility genes SRGAP1, NKX2-1, SRRM2 and FOXE1. The population prevalence of the G534E variant in HABP2 was examined in two independent cohorts.
resultsHeterozygosity for the G534E variant in HABP2 was found in 1 of 37 probands (2.7 %), but did not cosegregate with disease in this kindred, being absent in the proband's affected sister. From whole exome data, pathogenic mutations were not identified in HABP2, SRGAP1, NKX2-1, SRRM2 or FOXE1. Heterozygosity for the G534E variant in HABP2 was present in 7.6 % of Busselton Health Study participants (N = 4634, unknown disease status) and 9.3 % of TwinsUK participants (N = 1195, no history of thyroid cancer).
conclusionsThe G534E variant in HABP2 does not account for the familial nature of NMTC in Australian kindreds, and is common in the general population. Further research is required to elucidate the genetic basis of nonsyndromic FNMTC.
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