ArticleThe Journal of clinical endocrinology and metabolism2013
SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
46 citing papers in PubMed, 3 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2025Guideline
- Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer.Medicine · 2015Pooled it
- Relationships of FOXE1 and ATM genetic polymorphisms with papillary thyroid carcinoma risk: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype.American journal of human genetics · 2024Article
- CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function.The Journal of biological chemistry · 2024Article
- Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.Frontiers in oncology · 2024Review
- Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.International journal of molecular sciences · 2023Article
- Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing.International journal of molecular sciences · 2023Article
- Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation.Genome research · 2023Article
- A proliferative to invasive switch is mediated by srGAP1 downregulation through the activation of TGF-β2 signaling.Cell reports · 2022Article
- Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing.Endocrine connections · 2022Article
- The emerging roles of srGAPs in cancer.Molecular biology reports · 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
- A pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer.Endocrine · 2021Article
- Article
- Familial non-medullary thyroid cancer: a critical review.Journal of endocrinological investigation · 2021Review
- Review
Corrections and comments
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Authors and funding
29 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundPapillary thyroid carcinoma (PTC) shows high heritability, yet efforts to find predisposing genes have been largely negative.
objectivesThe objective of this study was to identify susceptibility genes for PTC.
methodsA genome-wide linkage analysis was performed in 38 families. Targeted association study and screening were performed in 2 large cohorts of PTC patients and controls. Candidate DNA variants were tested in functional studies.
resultsLinkage analysis and association studies identified the Slit-Robo Rho GTPase activating protein 1 gene (SRGAP1) in the linkage peak as a candidate gene. Two missense variants, Q149H and A275T, localized in the Fes/CIP4 homology domain segregated with the disease in 1 family each. One missense variant, R617C, located in the RhoGAP domain occurred in 1 family. Biochemical assays demonstrated that the ability to inactivate CDC42, a key function of SRGAP1, was severely impaired by the Q149H and R617C variants.
conclusionsOur findings suggest that SRGAP1 is a candidate gene in PTC susceptibility. SRGAP1 is likely a low-penetrant gene, possibly of a modifier type.
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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.