ReviewCarcinogenesis2011
Genetic architecture of cancer and other complex diseases: lessons learned and future directions.
Review in Carcinogenesis, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 3 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
61 citing papers in PubMed, 3 syntheses or guidelines pooled it, 116 citations in OpenAlex.
- Genetic diversity is a predictor of mortality in humans.BMC genetics · 2014Pooled it
- A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.European journal of human genetics : EJHG · 2014Pooled it
- Pleiotropy of cancer susceptibility variants on the risk of non-Hodgkin lymphoma: the PAGE consortium.PloS one · 2014Pooled it
- Best practices for improving alignment and variant calling on human sex chromosomes.American journal of human genetics · 2026Article
- Multifunctional nanosponges in cancer therapy: Integrating targeted drug delivery and theranostic potential.International journal of pharmaceutics: X · 2025Review
- From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.Journal of cardiovascular development and disease · 2025Review
- Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.Cancers · 2025Article
- Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer.BMC genomics · 2024Article
- P53 Gene as a Promising Biomarker and Potential Target for the Early Diagnosis of Reproductive Cancers.Cureus · 2024Review
- Genetic risk assessment based on association and prediction studies.Scientific reports · 2023Article
- Gene-based burden scores identify rare variant associations for 28 blood biomarkers.BMC genomic data · 2023Article
- Unified views on variant impact across many diseases.Trends in genetics : TIG · 2023Review
- Article
- Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.Nature communications · 2022Article
- A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.Human genetics · 2022Article
- PopInf: An Approach for Reproducibly Visualizing and Assigning Population Affiliation in Genomic Samples of Uncertain Origin.Journal of computational biology : a journal of computational molecular cell biology · 2021Article
- Expression, Epigenetic, and Genetic Changes of HNF1B in Colorectal Lesions: an Analysis of 145 Cases.Pathology oncology research : POR · 2020Article
- The Oncogenic Potential of the Centromeric Border Protein FAM84B of the 8q24.21 Gene Desert.Genes · 2020Review
- Interplay Between Autophagy and Wnt/β-Catenin Signaling in Cancer: Therapeutic Potential Through Drug Repositioning.Frontiers in oncology · 2020Review
- From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases.Frontiers in genetics · 2020Review
1 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
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies have broadened our understanding of the genetic architecture of cancer to include common variants, in addition to the rare variants previously identified by linkage analysis. We review current knowledge on the genetic architecture of four cancers--breast, lung, prostate and colorectal--for which the balance of common and rare alleles identified ranges from fewer common alleles (lung cancer) to more common alleles (prostate cancer). Although most variants are cancer specific, pleiotropy has been observed for several variants, for example, variants at the 8q24 locus and breast, ovarian and prostate cancers or variants in KITLG in relation to hair color and testicular cancer. Although few studies have been adequately powered to investigate heterogeneity among ancestry groups, effect sizes associated with common variants have been reported to be fairly homogenous among ethnic groups. Some associations appear to be ancestry specific, such as HNF1B, which is associated with prostate cancer in European Americans and Latinos but not in African-Americans. Studies of cancer and other complex diseases suggest that a simple dichotomy between rare and common allelic architectures may be too simplistic and that future research is needed to characterize a fuller spectrum of allele frequency (common (>5%), uncommon (1-5%) and rare (<<1%) alleles) and effect size. In addition, a broadening of the concept of genetic architecture to encompass both population architecture, which reflects differences in exposures, genetic factors and population level risk among diverse groups of people, and genomic architecture, which includes structural, epigenomic and somatic variation, is envisioned.
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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.