title: Modification of risk for cancer as a coincidental finding in DNA array investigation.
abstract: 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.
authors.affiliation: Clinical Department of Pediatrics IV, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: K
authors.initials: K
authors.lastname: Rostasy
authors.forename: C
authors.initials: C
authors.lastname: Fauth
authors.forename: K
authors.initials: K
authors.lastname: Gautsch
authors.forename: I
authors.initials: I
authors.lastname: Laimer
authors.forename: B
authors.initials: B
authors.lastname: Krabichler
authors.forename: K
authors.initials: K
authors.lastname: Wimmer
authors.forename: A
authors.initials: A
authors.lastname: Frühmesser
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
authors.forename: S
authors.initials: S
authors.lastname: Moshir
mesh_terms: D000293:Adolescent; D064447:Checkpoint Kinase 2; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D033162:Incidental Findings; D008279:Magnetic Resonance Imaging; D025581:Neurofibromin 2 / Q000235:genetics; D009464:Neuroma, Acoustic / Q000175:diagnosis / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012307:Risk Factors
chemical_list: D025581:Neurofibromin 2; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases