SynthesisFamilial cancer2017
Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe.
Synthesis in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- GermlineFrontiers in medicine · 2024Article
- Article
- RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.The Journal of clinical investigation · 2022Article
- High Expression of RECQL Protein in ER-Positive Breast Tumours Is Associated With a Better Survival.Frontiers in oncology · 2022Article
- RecQ Helicase Somatic Alterations in Cancer.Frontiers in molecular biosciences · 2022Review
- Disease Spectrum of Breast Cancer Susceptibility Genes.Frontiers in oncology · 2021Article
- Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.Hereditary cancer in clinical practice · 2020Article
- BeyondJournal of clinical medicine · 2020Article
- RECQ1 Helicase in Genomic Stability and Cancer.Genes · 2020Review
- Clinical implications of germline mutations in breast cancer genes: RECQL.Breast cancer research and treatment · 2019Review
- Allelic variants of breast cancer susceptibility genesHereditary cancer in clinical practice · 2019Article
- Mutations in RECQL are not associated with breast cancer risk in an Australian population.Nature genetics · 2018Article
- Reply to 'Mutations in RECQL are not associated with breast cancer risk in an Australian population'.Nature genetics · 2018Article
- FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.BMC medical genetics · 2018Article
- Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.Plastic and reconstructive surgery. Global open · 2017Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer susceptibility gene. The most common RECQL mutation, the 4 bp-deletion c.1667_1667+3delAGTA, was five-fold enriched in Polish breast cancer patients, but the exact magnitude of the risk is uncertain. We investigated two hospital-based breast cancer case-control series from Belarus and Germany, respectively, comprising a total of 2596 breast cancer patients and 2132 healthy females. The mutation was found in 9 cases and 6 controls, with an adjusted Odds Ratio 1.23 (95% CI 0.44-3.47; p = 0.69) in the combined analysis. Among the cases, heterozygosity for c.1667_1667+3delAGTA was linked with estrogen-receptor positive breast cancer. There was no significant difference in age at diagnosis between carriers and non-carriers, and only one of the carriers reported a first-degree family history. Meta-analysis with the initial study from Poland suggests an about two-fold increase in risk for this mutation (OR 2.51; 95% CI 1.13-5.57, p = 0.02). Altogether, the data indicate that RECQL* c.1667_1667+3delAGTA is not a high-risk mutation for breast cancer though it could represent a moderate-risk breast cancer susceptibility allele. Further studies will be required to determine the clinical significance of testing for this RECQL mutation.
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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.