Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization

J Austin Hamm; Fady M Mikhail; Dana Hollenbeck; Meagan Farmer; Nathaniel H Robin

doi:10.1016/j.jpeds.2014.07.042

Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization

J Pediatr. 2014 Nov;165(5):1057-9.e1-4. doi: 10.1016/j.jpeds.2014.07.042. Epub 2014 Sep 4.

Authors

J Austin Hamm¹, Fady M Mikhail¹, Dana Hollenbeck¹, Meagan Farmer¹, Nathaniel H Robin²

Affiliations

¹ Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
² Department of Genetics, University of Alabama at Birmingham, Birmingham, AL; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL; Department of Otolarnygology, University of Alabama at Birmingham, Birmingham, AL. Electronic address: nrobin@uab.edu.

PMID: 25201531
DOI: 10.1016/j.jpeds.2014.07.042

Abstract

We describe 2 pediatric patients who presented to medical genetics clinic for evaluation and were incidentally found via array comparative genomic hybridization to have pathogenic copy number variations of cancer predisposition genes. We subsequently reviewed 3554 previous array comparative genomic hybridization results to estimate the frequency of similar incidental findings.

Publication types

Case Reports

MeSH terms

Child
Comparative Genomic Hybridization / methods*
DNA Copy Number Variations*
Female
Genetic Predisposition to Disease*
Humans
Incidental Findings
Infant
Neoplasms / genetics*
Oligonucleotide Array Sequence Analysis / methods