ArticleHuman molecular genetics2014
Most common 'sporadic' cancers have a significant germline genetic component.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 5 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.The British journal of dermatology · 2022Pooled it
- Association between genetic polymorphisms and endometrial cancer risk: a systematic review.Journal of medical genetics · 2020Pooled it
- Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.Human molecular genetics · 2018Pooled it
- Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.Nature communications · 2016Pooled it
- GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.Human molecular genetics · 2016Pooled it
- Genome-wide association studies of survival in 1520 cancer patients treated with bevacizumab-containing regimens.International journal of cancer · 2022Trial
- Implementation of genome-wide complex trait analysis to quantify the heritability in multiple myeloma.Scientific reports · 2015Trial
- Genotype-driven variations in lncRNA expression underlie predisposition to high-grade serous ovarian cancer.Journal of advanced research · 2026Article
- Advancing towards clear and patient-centred language in cancer genetics.European journal of human genetics : EJHG · 2026Article
- Comparative Genomic and Microenvironmental Profiles of Hereditary and Sporadic TNBC in Colombian Women.Biology · 2025Article
- Detecting likely germline variants during tumor-based molecular profiling.The Journal of clinical investigation · 2025Review
- Genetic variation perspective reveals potential drug targets for subtypes of endometrial cancer.Scientific reports · 2024Article
- The Impact of Li-Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes, and Genetic Testing Recommendations.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Germline variants in patients diagnosed with pediatric soft tissue sarcoma.Acta oncologica (Stockholm, Sweden) · 2024Article
- Using Genetics to Investigate Relationships between Phenotypes: Application to Endometrial Cancer.Genes · 2024Review
- Review
- A protocol for annotation of total body photography for machine learning to analyze skin phenotype and lesion classification.Frontiers in medicine · 2024Article
- Potential application of elastic nets for shared polygenicity detection with adapted threshold selection.The international journal of biostatistics · 2023Article
- Exploring the Complex and Multifaceted Interplay between Melanoma Cells and the Tumor Microenvironment.International journal of molecular sciences · 2023Review
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
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16 authors.
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Abstract
Common cancers have been demarcated into 'hereditary' or 'sporadic' ('non-hereditary') types historically. Such distinctions initially arose from work identifying rare, highly penetrant germline mutations causing 'hereditary' cancer. While rare mutations are important in particular families, most cases in the general population are 'sporadic'. Twin studies have suggested that many 'sporadic' cancers show little or no heritability. To quantify the role of germline mutations in cancer susceptibility, we applied a method for estimating the importance of common genetic variants (array heritability, h(2)g) to twelve cancer types. The following cancers showed a significant (P < 0.05) array heritability: melanoma USA set h(2)g = 0.19 (95% CI = 0.01-0.37) and Australian set h(2)g = 0.30 (0.10-0.50); pancreatic h(2)g = 0.18 (0.06-0.30); prostate h(2)g = 0.81 (0.32-1); kidney h(2)g = 0.18 (0.04-0.32); ovarian h(2)g = 0.30 (0.18-0.42); esophageal adenocarcinoma h(2)g = 0.24 (0.14-0.34); esophageal squamous cell carcinoma h(2)g = 0.19 (0.07-0.31); endometrial UK set h(2)g = 0.23 (0.01-0.45) and Australian set h(2)g = 0.39 (0.02-0.76). Three cancers showed a positive but non-significant effect: breast h(2) g = 0.13 (0-0.56); gastric h(2)g = 0.11 (0-0.27); lung h(2)g = 0.10 (0-0.24). One cancer showed a small effect: bladder h(2)g = 0.01 (0-0.11). Among these cancers, previous twin studies were only able to show heritability for prostate and breast cancer, but we can now make much stronger statements for several common cancers which emphasize the important role of genetic variants in cancer susceptibility. We have demonstrated that several 'sporadic' cancers have a significant inherited component. Larger genome-wide association studies in these cancers will continue to find more loci, which explain part of the remaining polygenic component.
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