SynthesisEuropean journal of human genetics : EJHG2020
Evidence for penetrance in patients without a family history of disease: a systematic review.
Synthesis in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
9 citing papers in PubMed.
- Epidemiological analysis of turner syndrome in children aged 0-14 years: global, regional, and national perspectives (1990-2021).Frontiers in endocrinology · 2025Article
- MDVarP: modifier ~ disease-causing variant pairs predictor.BioData mining · 2024Article
- Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.European journal of human genetics : EJHG · 2024Article
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nature reviews. Genetics · 2023Review
- Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.Frontiers in genetics · 2022Review
- 'We Should View Him as an Individual': The Role of the Child's Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing.Health care analysis : HCA : journal of health philosophy and policy · 2021Article
- Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.JNCI cancer spectrum · 2021Article
- Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nature communications · 2021Article
- Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy.Current cardiology reports · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Family-based penetrance is frequently cited as a major challenge for translating penetrance estimates from familial populations to asymptomatic populations. A systematic review was performed to assess the literature evidencing penetrance estimates in patients without a family history of disease, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework. Initially 1592 papers were identified, which were filtered to a final nine, through application of inclusion and exclusion criteria. Fundamental differences in the identified papers prevented combination of papers using meta-analysis, so thematic analysis to produce a narrative synthesis was performed. Key themes included disease risk modifiers, evidence, study limitations and bias. A methodological appraisal too was used to assess quality of included studies. It is evident from the findings that the evidence base for penetrance estimates in individuals without a family history of disease is limited. Future work is needed to refine design of penetrance studies and the impact of incorrect estimates.
Indexed as
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.