Signature Genomic Laboratories Detects Chromosome Abnormalities In Individuals With Genetic Disorders Associated With Susceptibility To Cancer

Main Category: Genetics
Article Date: 24 May 2009 - 0:00 PDT

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Geneticists at Signature Genomic Laboratories recently demonstrated that microarray-based genetic testing can identify chromosome abnormalities that cause genetic disorders associated with susceptibility to cancer prior to the onset of symptoms.

In their study, published in the May issue of Genetics in Medicine, geneticists from Signature reviewed data from 18,437 individuals who were tested by microarray analysis for unexplained mental retardation and congenital anomalies. DNA copy number gains or losses that encompassed gene regions associated with recognized genetic conditions with an increased risk for cancer were identified in 34 individuals. Almost three-quarters of those individuals had indications for study that were not specific to the diagnosed syndrome and therefore presumably did not have signs of cancer. The authors describe multiple instances in which early diagnosis improved medical management of the patient and allowed for early surveillance of cancer onset.

"It is well known that microarray analysis allows for diagnosis of genetic syndromes at an early age that otherwise may not be diagnosed until onset of symptoms later in life," said Dr. Bassem A. Bejjani, M.D., Chief Medical Officer of Signature and senior author of the study. "However, this study shows the impact of early diagnosis is even more profound when a syndrome is associated with childhood-onset cancer, in which the threat of cancer is added to the child's other medical issues."

Source
Signature Genomic Laboratories, LLC

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