ArticleThe EPMA journal2010
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Article in The EPMA journal, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 6 of them syntheses that pooled it.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
128 citing papers in PubMed, 6 syntheses or guidelines pooled it, 224 citations in OpenAlex.
- Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.European journal of medical research · 2024Pooled it
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Pooled it
- Breast Cancer Statistics in the European Union: Incidence and Survival across European Countries.Breast care (Basel, Switzerland) · 2019Pooled it
- Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.Oncotarget · 2016Pooled it
- BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.Disease markers · 2015Pooled it
- Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.PloS one · 2017Trial
- BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications.European journal of human genetics : EJHG · 2026Article
- Article
- Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.Scientific reports · 2026Article
- Frequency of Founder Mutations inCancers · 2026Review
- Hereditary ovarian cancer.Discover oncology · 2026Review
- Clinicopathological features of breast cancer in Ukrainian women with BRCA1 c.181T>G (p.Cys61Gly) variant: a case series.Frontiers in endocrinology · 2026Article
- GermlinePathology oncology research : POR · 2026Article
- Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.Familial cancer · 2025Article
- The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant inCurrent oncology (Toronto, Ont.) · 2025Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- The cardio-oncologic burden of breast cancer: molecular mechanisms and importance of preclinical models.Basic research in cardiology · 2025Review
- Prevalence of Novel and Recurrent Pathogenic Variants inAdvanced biomedical research · 2025Article
- Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.PloS one · 2025Article
68 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2 genes is an effective method of cancer prevention and early detection. Different ethnic and geographical regions have different BRCA1 and BRCA2 mutation spectrum and prevalence. Along with the emerging targeted therapy, demand and uptake for rapid BRCA1/2 mutations testing will increase in a near future. However, current patients selection and genetic testing strategies in most countries impose significant lag in this practice. The knowledge of the genetic structure of particular populations is important for the developing of effective screening protocol and may provide more efficient approach for the individualization of genetic testing. Elucidating of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a national and international healthcare system level, making genetic testing more affordable and cost-effective. The purpose of this review is to summarize current evidence about the BRCA1/2 founder mutations diversity in European populations.
Identifiers
What OpenQuestion holds
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.