ArticleMolecular cancer2015
Identification of rare germline copy number variations over-represented in five human cancer types.
Article in Molecular cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- Amino acid metabolism-related LncRNAs as prognostic biomarkers and predictors of immunotherapy response in hepatocellular carcinoma.Discover oncology · 2025Article
- Review
- Insights into the Clinical, Biological and Therapeutic Impact of Copy Number Alteration in Cancer.International journal of molecular sciences · 2024Review
- Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.European urology open science · 2024Article
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Article
- Shallow Whole-Genome Sequencing of Cell-Free DNA (cfDNA) Detects Epithelial Ovarian Cancer and Predicts Patient Prognosis.Cancers · 2023Article
- Construction and validation of a prognostic signature using CNV-driven genes for hepatocellular carcinoma.Annals of translational medicine · 2021Article
- Article
- Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.American journal of human genetics · 2019Article
- MR imaging phenotype correlates with extent of genome-wide copy number abundance in IDH mutant gliomas.Neuroradiology · 2019Article
- Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.The Journal of clinical endocrinology and metabolism · 2019Article
- A Propensity Score-adjusted Analysis of the Effects of Ubiquitin E3 Ligase Copy Number Variation in Peripheral Blood Leukocytes on Colorectal Cancer Risk.Journal of Cancer · 2019Article
- Identifying disease-associated copy number variations by a doubly penalized regression model.Biometrics · 2018Article
- Genetic susceptibility to neuroblastoma: current knowledge and future directions.Cell and tissue research · 2018Review
- Long noncoding RNA CNALPTC1 promotes cell proliferation and migration of papillary thyroid cancer via sponging miR-30 family.American journal of cancer research · 2018Article
- QuaDMutEx: quadratic driver mutation explorer.BMC bioinformatics · 2017Article
- BREAST CANCER HISTOPATHOLOGY IMAGE ANALYSIS PIPELINE FOR TUMOR PURITY ESTIMATION.Proceedings. IEEE International Symposium on Biomedical Imaging · 2017Article
- Next Generation Sequencing of Circulating Cell-Free DNA for Evaluating Mutations and Gene Amplification in Metastatic Breast Cancer.Clinical chemistry · 2017Article
- ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data.BioMed research international · 2017Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundCopy number variations (CNVs) are increasingly recognized as significant disease susceptibility markers in many complex disorders including cancer. The availability of a large number of chromosomal copy number profiles in both malignant and normal tissues in cancer patients presents an opportunity to characterize not only somatic alterations but also germline CNVs, which may confer increased risk for cancer.
resultsWe explored the germline CNVs in five cancer cohorts from the Cancer Genome Atlas (TCGA) consisting of 351 brain, 336 breast, 342 colorectal, 370 renal, and 314 ovarian cancers, genotyped on Affymetrix SNP6.0 arrays. Comparing these to ~3000 normal controls from another study, our case-control association study revealed 39 genomic loci (9 brain, 3 breast, 4 colorectal, 11 renal, and 12 ovarian cancers) as potential candidates of tumor susceptibility loci. Many of these loci are new and in some cases are associated with a substantial increase in disease risk. The majority of the observed loci do not overlap with coding sequences; however, several observed genomic loci overlap with known cancer genes including RET in brain cancers, ERBB2 in renal cell carcinomas, and DCC in ovarian cancers, all of which have not been previously associated with germline changes in cancer.
conclusionsThis large-scale genome-wide association study for CNVs across multiple cancer types identified several novel rare germline CNVs as cancer predisposing genomic loci. These loci can potentially serve as clinically useful markers conferring increased cancer risk.
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