Modification of risk for cancer as a coincidental finding in DNA array investigation
Article first published online: 9 APR 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 3, pages 284–287, March 2013
How to Cite
Rostasy, K., Fauth, C., Gautsch, K., Laimer, I., Krabichler, B., Wimmer, K., Frühmesser, A., Kotzot, D. and Moshir, S. (2013), Modification of risk for cancer as a coincidental finding in DNA array investigation. Clinical Genetics, 83: 284–287. doi: 10.1111/j.1399-0004.2012.01881.x
- Issue published online: 18 FEB 2013
- Article first published online: 9 APR 2012
- Accepted manuscript online: 19 MAR 2012 12:51PM EST
- Received 19 January 2012, revised and accepted for publication 15 March 2012
- neurofibromatosis type 2;
- SNP array
Rostasy K, Fauth C, Gautsch K, Laimer I, Krabichler B, Wimmer K, Frühmesser A, Kotzot D, Moshir S. Modification of risk for cancer as a coincidental finding in DNA array investigation.
The high resolution of modern DNA arrays has the implification of unintended coincidental detection of gene deletions predisposing to late-onset neurological and oncological disorders. Here, we report the case of an 18-year-old girl with mild intellectual disability, facial dysmorphisms, and a microdeletion of approximately 6.3 Mb on 22q12.1q12.3 including NF2, the gene for neurofibromatosis type 2, and CHEK2, a modifier gene for breast cancer. Subsequent magnetic resonance imaging of the brain showed she had already developed bilateral vestibular schwannomas. The challenge of DNA arrays and the consequences for genetic counselling and informed consent will be discussed in the light of this unique case with a microdeletion including both a high risk and a moderate risk cancer predisposition gene.