ArticleAmerican journal of human genetics2012
Rare de novo germline copy-number variation in testicular cancer.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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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.
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Article
- Testicular Cancer: Genes, Environment, Hormones.Frontiers in endocrinology · 2019Review
- Potential role of BCL2 in the recurrence of uterine smooth muscle tumors of uncertain malignant potential.Oncology reports · 2017Article
- Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention.Stem cells and development · 2016Article
- SMASH, a fragmentation and sequencing method for genomic copy number analysis.Genome research · 2016Article
- Genomic screening of testicular germ cell tumors from monozygotic twins.Orphanet journal of rare diseases · 2014Article
- Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk.Frontiers in genetics · 2014Article
- Copy number polymorphism in plant genomes.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2014Review
- The role of AUTS2 in neurodevelopment and human evolution.Trends in genetics : TIG · 2013Review
- Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.BMC research notes · 2013Article
- Genome-wide assessment of the association of rare and common copy number variations to testicular germ cell cancer.Frontiers in endocrinology · 2013Article
Corrections and comments
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Authors and funding
25 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although heritable factors are an important determinant of risk of early-onset cancer, the majority of these malignancies appear to occur sporadically without identifiable risk factors. Germline de novo copy-number variations (CNVs) have been observed in sporadic neurocognitive and cardiovascular disorders. We explored this mechanism in 382 genomes of 116 early-onset cancer case-parent trios and unaffected siblings. Unique de novo germline CNVs were not observed in 107 breast or colon cancer trios or controls but were indeed found in 7% of 43 testicular germ cell tumor trios; this percentage exceeds background CNV rates and suggests a rare de novo genetic paradigm for susceptibility to some human malignancies.
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Registered trials
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