ArticleBMJ (Clinical research ed.)2020
Cancer risk in individuals with major birth defects: large Nordic population based case-control study among children, adolescents, and adults.
Article in BMJ (Clinical research ed.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 4 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 4 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Risk of Cancer in Patients with Congenital Heart Disease: A Systematic Review and Meta-Analysis.Cardiology · 2025Pooled it
- Maternal Consumption of Milk or Dairy Products During Pregnancy and Birth Outcomes: A Systematic Review and Dose-Response Meta-Analysis.Frontiers in nutrition · 2022Pooled it
- Health and Well-Being in Surviving Congenital Heart Disease Patients: An Umbrella Review With Synthesis of Best Evidence.Frontiers in cardiovascular medicine · 2022Pooled it
- Barrett's oesophagus and oesophageal cancer following oesophageal atresia repair: a systematic review.BJS open · 2021Pooled it
- Association between maternal serum RANKL and adverse birth outcomes: a prospective cohort study.Annals of medicine · 2026Article
- Gestational lipid profile partially mediates adverse obstetric outcomes associated with polycystic ovary syndrome: a multicentre cohort study in China.Lipids in health and disease · 2026Observational
- Lifetime risk of solid tumors and leukemia in Down Syndrome: a population-based Swedish matched cohort study.British journal of cancer · 2026Article
- Single vs dual genetic disease in children with congenital anomalies and solid tumors.Genetics in medicine open · 2026Article
- Structural birth defects and leukemia risk in children with Down syndrome.Scientific reports · 2025Article
- Risk of Childhood Cancer in Children with Congenital Anomalies and Their Impact on Survival: A Population-Based Registry Approach.Current oncology (Toronto, Ont.) · 2025Article
- Mortality and Causes of Death in Boys and Men Born With Hypospadias: A Swedish Population-Based Cohort Study.Urology practice · 2025Article
- Article
- Copy number variations contribute to malignant tumor development in children with serious birth defects.Molecular oncology · 2025Article
- Esophageal Cancer in a Patient With Poland Syndrome.Ochsner journal · 2025Article
- Cancer risk in individuals with polydactyly: a Swedish population-based cohort study.British journal of cancer · 2024Article
- Causality between six psychiatric disorders and digestive tract cancers risk: a two-sample Mendelian randomization study.Scientific reports · 2024Article
- Nonchromosomal birth defects and risk of childhood acute leukemia: An assessment in 15 000 leukemia cases and 46 000 controls from the Childhood Cancer and Leukemia International Consortium.International journal of cancer · 2024Article
- Using existing pediatric cancer data from the Gabriella Miller Kids First Data Resource Program.JNCI cancer spectrum · 2023Article
- Risk and mortality of testicular cancer in patients with neurodevelopmental or other psychiatric disorders.British journal of cancer · 2023Article
- Sex differences in childhood cancer risk among children with major birth defects: a Nordic population-based nested case-control study.International journal of epidemiology · 2023Article
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo examine associations between birth defects and cancer from birth into adulthood.
designPopulation based nested case-control study.
settingNationwide health registries in Denmark, Finland, Norway, and Sweden.
participants62 295 cancer cases (0-46 years) and 724 542 frequency matched controls (matched on country and birth year), born between 1967 and 2014.
main outcome measuresRelative risk of cancer in relation to major birth defects, estimated as odds ratios with 99% confidence intervals from logistic regression models.
resultsAltogether, 3.5% (2160/62 295) of cases and 2.2% (15 826/724 542) of controls were born with major birth defects. The odds ratio of cancer for people with major birth defects compared with those without was 1.74 (99% confidence interval 1.63 to 1.84). For individuals with non-chromosomal birth defects, the odds ratio of cancer was 1.54 (1.44 to 1.64); for those with chromosomal anomalies, the odds ratio was 5.53 (4.67 to 6.54). Many structural birth defects were associated with later cancer in the same organ system or anatomical location, such as defects of the eye, nervous system, and urinary organs. The odds ratio of cancer increased with number of defects and decreased with age, for both non-chromosomal and chromosomal anomalies. The odds ratio of cancer in people with any non-chromosomal birth defect was lower in adults (≥20 years: 1.21, 1.09 to 1.33) than in adolescents (15-19 years: 1.58, 1.31 to 1.90) and children (0-14 years: 2.03, 1.85 to 2.23). The relative overall cancer risk among adults with chromosomal anomalies was markedly reduced from 11.3 (9.35 to 13.8) in children to 1.50 (1.01 to 2.24). Among adults, skeletal dysplasia (odds ratio 3.54, 1.54 to 8.15), nervous system defects (1.76, 1.16 to 2.65), chromosomal anomalies (1.50, 1.01 to 2.24), genital organs defects (1.43, 1.14 to 1.78), and congenital heart defects (1.28, 1.02 to 1.59) were associated with overall cancer risk.
conclusionsThe increased risk of cancer in individuals with birth defects persisted into adulthood, both for non-chromosomal and chromosomal anomalies. Further studies on the molecular mechanisms involved are warranted.
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