ArticleCancer2022
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Article in Cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.Human genomics · 2025Pooled it
- Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas.Endocrine pathology · 2026Observational
- Hereditary syndromes and RCC: what radiologists need to know.Abdominal radiology (New York) · 2026Review
- Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.Hereditary cancer in clinical practice · 2026Article
- Accuracy of Magnetic Resonance Spectroscopy-Detected Fumarate Peak for Diagnosing Fumarate Hydratase Deficiency in Uterine Leiomyomas: A Prospective Study.Korean journal of radiology · 2026Article
- PIK-III-Mediated Elevation of Thiamine Re-Sensitises Renal Cell Carcinoma to Cuproptosis via Activating PDHA1.Cell proliferation · 2026Article
- Clinical Implementation of Matched Tumor/Germline Sequencing Improves Accuracy of Tumor Genomic Profiling and Therapeutic Recommendations.The Journal of molecular diagnostics : JMD · 2025Article
- Clinicopathological analysis of GLUT-1, GLS1, and GLS2 expression in breast cancer tissues from Jordanian patients.Scientific reports · 2025Article
- Revealing the Angiogenic Signature ofCancers · 2025Article
- Metabolic tumor parameters onAnnals of nuclear medicine · 2025Article
- Review
- Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.The Journal of clinical endocrinology and metabolism · 2024Article
- Ferroptosis: a promising target for fumarate hydratase-deficient tumor therapeutics literature review.Translational cancer research · 2024Review
- Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.Cancer prevention research (Philadelphia, Pa.) · 2024Article
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- Genomic alterations and diagnosis of renal cancer.Virchows Archiv : an international journal of pathology · 2024Review
- Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.Orphanet journal of rare diseases · 2024Article
- FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.Cancer discovery · 2023Article
- Review
- The Role of Circulating Biomarkers in the Oncological Management of Metastatic Renal Cell Carcinoma: Where Do We Stand Now?Biomedicines · 2021Review
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundGermline variants in fumarate hydratase (FH) are associated with autosomal dominant (AD) hereditary leiomyomatosis and renal cell cancer (HLRCC) and autosomal recessive (AR) fumarase deficiency (FMRD). The prevalence and cancer penetrance across different FH variants remain unclear.
methodsA database containing 120,061 records from individuals undergoing cancer germline testing was obtained. FH variants were classified into 3 categories: AD HLRCC variants, AR FMRD variants, and variants of unknown significance (VUSs). Individuals with variants from these categories were compared with those with negative genetic testing.
resultsFH variants were detected in 1.3% of individuals (AD HLRCC, 0.3%; AR FMRD, 0.4%; VUS, 0.6%). The rate of AD HLRCC variants discovered among reportedly asymptomatic individuals without a clear indication for HLRCC testing was 1 in 2668 (0.04%). In comparison with those with negative genetic testing, the renal cell carcinoma (RCC) prevalence was elevated with AD HLRCC variants (17.0% vs 4.5%; P < .01) and VUSs (6.4% vs 4.5%; P = .02) but not with AR FMRD variants.
conclusionsThe prevalence of HLRCC discovered incidentally on germline testing is similar to recent population carrier estimates, and this suggests that this is a relatively common cancer syndrome. Compared with those with negative genetic testing, those with VUSs had an elevated risk of RCC, whereas those with AR FMRD variants did not.
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