ArticleGenetics in medicine : official journal of the American College of Medical Genetics2013
Incidental copy-number variants identified by routine genome testing in a clinical population.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Ethics in genetic counselling.Journal of community genetics · 2019Review
- Clinical genomics: from a truly personal genome viewpoint.Human genetics · 2016Review
- Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Nucleic acids research · 2015Article
- Secondary findings and carrier test frequencies in a large multiethnic sample.Genome medicine · 2015Article
- Improving mutation screening in familial hematuric nephropathies through next generation sequencing.Journal of the American Society of Nephrology : JASN · 2014Article
- Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.Current genetic medicine reports · 2014Article
- The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.American journal of human genetics · 2014Article
- Three clinical experiences with SNP array results consistent with parental incest: a narrative with lessons learned.Journal of genetic counseling · 2014Article
- A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.Journal of genetic counseling · 2014Article
- Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.European journal of human genetics : EJHG · 2014Review
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.European journal of human genetics : EJHG · 2014Article
- An aroma of complexity: how the unique genetics of aromatase (CYP19A1) explain diverse phenotypes from hens and hyenas to human gynecomastia, and testicular and other tumors.The Journal of clinical endocrinology and metabolism · 2013Article
- Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.Genome research · 2013Article
- Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.JAMA · 2013Article
- Prenatal diagnostic conundrum involving a novel ATP7A duplication.Clinical genetics · 2013Article
- 'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project.Personalized medicineArticle
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Authors and funding
11 authors.
Funding
Abstract
purposeMutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these mutations as incidental findings during clinical testing been systematically ascertained.
methodsArray comparative genomic hybridization, a method for genome-wide detection of DNA copy-number variants, was performed clinically on DNA from 9,005 individuals. Copy-number variants encompassing or disrupting single genes were identified and analyzed for their potential to confer predisposition to dominant, adult-onset disease. Multigene copy-number variants affecting dominant, adult-onset cancer syndrome genes were also assessed.
resultsIn our cohort, 83 single-gene copy-number variants affected 40 unique genes associated with dominant, adult-onset disorders and unrelated to the patients' referring diagnoses (i.e., incidental) were found. Fourteen of these copy-number variants are likely disease-predisposing, 25 are likely benign, and 44 are of unknown clinical consequence. When incidental copy-number variants spanning up to 20 genes were considered, 27 copy-number variants affected 17 unique genes associated with dominant, adult-onset cancer predisposition.
conclusionCopy-number variants potentially conferring susceptibility to adult-onset disease can be identified as incidental findings during routine genome-wide testing. Some of these mutations may be medically actionable, enabling disease surveillance or prevention; however, most incidentally observed single-gene copy-number variants are currently of unclear significance to the patient.
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