ArticleProceedings of the National Academy of Sciences of the United States of America2012
Identification of functionally active, low frequency copy number variants at 15q21.3 and 12q21.31 associated with prostate cancer risk.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 52 citations in OpenAlex.
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- Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG.Nature communications · 2022Article
- Recognition of a Novel Gene Signature for Human Glioblastoma.International journal of molecular sciences · 2022Article
- Promoter/enhancer-based controllability of regulatory networks.Scientific reports · 2022Article
- Nuclear Transport Factor 2 (NTF2) suppresses WM983B metastatic melanoma by modifying cell migration, metastasis, and gene expression.Scientific reports · 2021Article
- Biomarker-guided heterogeneity analysis of genetic regulations via multivariate sparse fusion.Statistics in medicine · 2021Article
- Integrative Analysis of DNA Methylation and Gene Expression Profiles Identifies Colorectal Cancer-Related Diagnostic Biomarkers.Pathology oncology research : POR · 2021Article
- Prostate Cancer Germline Variations and Implications for Screening and Treatment.Cold Spring Harbor perspectives in medicine · 2018Review
- Early synergistic interactions between the HPV16‑E7 oncoprotein and 17β-oestradiol for repressing the expression of Granzyme B in a cervical cancer model.International journal of oncology · 2018Article
- Comprehensive map of age-associated splicing changes across human tissues and their contributions to age-associated diseases.Scientific reports · 2018Article
- Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci.Scientific reports · 2018Article
- Genome-wide Association Study (GWAS) of Germline Copy Number Variations (CNVs) Reveal Genetic Risks of Prostate Cancer in Chinese population.Journal of Cancer · 2018Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- Microarray analysis of copy-number variations and gene expression profiles in prostate cancer.Medicine · 2017Article
- Inherited determinants of early recurrent somatic mutations in prostate cancer.Nature communications · 2017Article
- Enhancer deregulation in cancer and other diseases.BioEssays : news and reviews in molecular, cellular and developmental biology · 2016Review
- Tracking Cancer Genetic Evolution using OncoTrack.Scientific reports · 2016Article
- Role of non-coding sequence variants in cancer.Nature reviews. Genetics · 2016Review
- In-silico identification and functional validation of allele-dependent AR enhancers.Oncotarget · 2015Article
Corrections and comments
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Authors and funding
29 authors at 9 institutions in 4 countries.
Funding
Abstract
Copy number variants (CNVs) are a recently recognized class of human germ line polymorphisms and are associated with a variety of human diseases, including cancer. Because of the strong genetic influence on prostate cancer, we sought to identify functionally active CNVs associated with susceptibility of this cancer type. We queried low-frequency biallelic CNVs from 1,903 men of Caucasian origin enrolled in the Tyrol Prostate Specific Antigen Screening Cohort and discovered two CNVs strongly associated with prostate cancer risk. The first risk locus (P = 7.7 × 10(-4), odds ratio = 2.78) maps to 15q21.3 and overlaps a noncoding enhancer element that contains multiple activator protein 1 (AP-1) transcription factor binding sites. Chromosome conformation capture (Hi-C) data suggested direct cis-interactions with distant genes. The second risk locus (P = 2.6 × 10(-3), odds ratio = 4.8) maps to the α-1,3-mannosyl-glycoprotein 4-β-N-acetylglucosaminyltransferase C (MGAT4C) gene on 12q21.31. In vitro cell-line assays found this gene to significantly modulate cell proliferation and migration in both benign and cancer prostate cells. Furthermore, MGAT4C was significantly overexpressed in metastatic versus localized prostate cancer. These two risk associations were replicated in an independent PSA-screened cohort of 800 men (15q21.3, combined P = 0.006; 12q21.31, combined P = 0.026). These findings establish noncoding and coding germ line CNVs as significant risk factors for prostate cancer susceptibility and implicate their role in disease development and progression.
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