ArticleEuropean journal of human genetics : EJHG2016
CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene.Scientific reports · 2026Article
- Sequence Variants in Small CAG Repeat Expansions of theNeurology · 2026Article
- Genetic Profiling of Huntington's Disease: Insights from CAG Repeat Analysis for Precision Diagnosis and Management.Noro psikiyatri arsivi · 2026Article
- Article
- Frequency and neuropathology of HTT repeat expansions in FTD/ALS: co-existence rather than causation.Journal of neurology · 2024Article
- CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons.Cell reports · 2024Article
- Review
- Apoptosis Genes as a Key to Identification of Inverse Comorbidity of Huntington's Disease and Cancer.International journal of molecular sciences · 2023Article
- Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington's Disease.Journal of Huntington's disease · 2023Article
- Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.Annals of clinical and translational neurology · 2022Article
- How the variability between computer-assisted analysis procedures evaluating immune markers can influence patients' outcome prediction.Histochemistry and cell biology · 2021Article
- Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases.Journal of Huntington's disease · 2021Review
- Antagonistic pleiotropy in mice carrying a CAG repeat expansion in the range causing Huntington's disease.Scientific reports · 2019Article
- A survey of recent unusual high-resolution DNA structures provoked by mismatches, repeats and ligand binding.Nucleic acids research · 2018Review
- Cancer: From Wild-Type to Mutant Huntingtin.Journal of Huntington's disease · 2018Review
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The abnormal expansion of a ≥36 CAG unit tract in the Huntingtin gene (HTT) leads to Huntington's disease (HD), but has also been associated with cancer: the incidence of cancer is lower in HD patients than in age-matched controls, but HD-causing variants of HTT accelerate the progression of breast tumors and the development of metastases in mouse models of breast cancer. To investigate the relationship between HTT CAGs and cancer, data concerning 2407 women with BRCA1 or BRCA2 mutations that predispose to breast and ovarian cancers and 431 patients with breast cancer without family histories were studied; the size of the CAG expansions on both HTT alleles was determined in each subject. The proportion of individuals carrying a CAG expansion in a pathological range for HD was 10 times more frequent than previously reported in the literature. In carriers of BRCA2 mutations, the length of the HTT CAG tract was correlated with lower incidence of ovarian cancer. Among carriers of BRCA1 mutations who developed a breast cancer, its onset occurred 2.4 years earlier in individuals with intermediate HTT alleles (≥27) than in those with a CAG tract <27. Finally, in patients with sporadic HER2 breast cancer, metastasis increased by a factor of 11.10 per 10 additional CAG repeats in HTT. We concluded that whereas long CAG length could be associated with lower cancer incidence, it could also be paradoxically associated with cancer severity (age of apparition and metastasis development).
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