ArticleCell reports2014
Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients.
Article in Cell reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Challenges and proposed solutions to the adoption of cell free DNA in screening, detecting and prognosticating colorectal cancer.World journal of gastrointestinal oncology · 2025Review
- Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer.Frontiers in genetics · 2021Article
- Lung cancer A549 cells suppressed with overexpressed HNF1B or PCDHA13 inhibited PI3K/AKT phosphorylation.Translational cancer research · 2020Article
- Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer.Nature biotechnology · 2020Article
- Cell-free DNA analysis in healthy individuals by next-generation sequencing: a proof of concept and technical validation study.Cell death & disease · 2019Article
- Mutational signatures and mutable motifs in cancer genomes.Briefings in bioinformatics · 2018Review
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- The potential of liquid biopsies for the early detection of cancer.NPJ precision oncology · 2017Review
- The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease.Nature reviews. Neuroscience · 2016Review
- The landscape of somatic mutations in protein coding genes in apparently benign human tissues carries signatures of relaxed purifying selection.Nucleic acids research · 2016Article
- Toward an evolutionary model of cancer: Considering the mechanisms that govern the fate of somatic mutations.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- A new conceptual framework for investigating complex genetic disease.Frontiers in genetics · 2015Article
- Somatic mosaicism in the human genome.Genes · 2014Review
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
Abstract
Little is understood about the occurrence of somatic genomic alterations in normal tissues and their significance in the context of disease. Here, we identified potential somatic copy number alterations (pSCNAs) in apparently normal ovarian tissue and peripheral blood of 423 ovarian cancer patients. There were, on average, two to four pSCNAs per sample detectable at a tissue-level resolution, although some individuals had orders of magnitude more. Accordingly, we estimated the lower bound of the rate of pSCNAs per cell division. Older individuals and BRCA mutation carriers had more pSCNAs than others. pSCNAs significantly overlapped with Alu and G-quadruplexes, and the affected genes were enriched for signaling and regulation. Some of the amplification/deletion hotspots in pan-cancer genomes were hot spots of pSCNAs in normal tissues as well, suggesting that those regions might be inherently unstable. Prevalence of pSCNA in peripheral blood predicted survival, implying that mutations in normal tissues might have consequences for cancer patients.
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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.