ArticleJCO precision oncology2021
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.
Article in JCO precision oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- Multi-population GWAS meta-analysis identifies bladder cancer susceptibility loci and highlights genetic regulation of smoking-related risk.Nature communications · 2026Pooled it
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Article
- Immune checkpoint inhibitors in bladder cancer: from mechanistic insights to emerging combination frontlines.Clinical and experimental medicine · 2026Review
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- Global, regional, and national burden of bladder cancer from 1990 to 2021 with projections to 2050: insights from the global burden of disease study and Mendelian randomization analysis.Infectious agents and cancer · 2025Article
- Genomic Ascertainment of CHEK2-Related Cancer Predisposition.JAMA network open · 2025Article
- Review
- Hereditary and Familial Traits in Urological Cancers and Their Underlying Genes.European urology open science · 2024Article
- The landscape of rare genetic variants in familial Waldenström macroglobulinemia.Blood neoplasia · 2024Article
- Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.BMC genomics · 2023Article
- Bladder Cancer in Lebanon: An Updated Epidemiological Comparison with Global Regions and a Comprehensive Review of Risk Factors.Cancer control : journal of the Moffitt Cancer CenterReview
Corrections and comments
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Authors and funding
22 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrevious studies have shown an approximately two-fold elevation in the relative risk of urinary bladder cancer (UBC) among people with a family history that could not be entirely explained by shared environmental exposures, thus suggesting a genetic component in its predisposition. Multiple genome-wide association studies and recent gene panel sequencing studies identified several genetic loci that are associated with UBC risk; however, the list of UBC-associated variants and genes is incomplete. MATERIALS AND
methodsWe exome sequenced eight patients from three multiplex UBC pedigrees and a group of 77 unrelated familial UBC cases matched to 241 cancer-free controls. In addition, we examined pathogenic germline variation in 444 candidate genes in 392 The Cancer Genome Atlas UBC cases.
resultsIn the pedigrees, segregating variants were family-specific although the identified genes clustered in common pathways, most notably DNA repair (
conclusionThese results point to a complex polygenic predisposition to UBC. Despite heterogeneity, the genes cluster in several biologically relevant pathways and processes, for example, DNA repair, cilia biogenesis, and cellular metabolism. Larger studies are required to determine the importance of
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