Journal
GENETICS IN MEDICINE
Volume 16, Issue 11, Pages 830-837Publisher
ELSEVIER SCIENCE INC
DOI: 10.1038/gim.2014.40
Keywords
hereditary cancer; moderate-penetrance genes; multigene panels; next-generation-sequencing; targeted panels
Categories
Funding
- Ambry Genetics
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Purpose: The aim of this study was to determine the clinical and molecular characteristics of 2,079 patients who underwent hereditary calker multigene panel testing. Methods: Panels included comprehensive analysis of 14-22 cancer susceptibility genes (BRCA1 and BRCA2 not included), depending on the panel ordered (BreastNext, OvaNext, ColoNext, or CancerNext). Next-generation sequencing and deletion/duplication analyses-were performed for all genes except EPCAM (deletion/duplication analysis only). Clinical histories of ColoNext patients harboring mutations in genes with well-established diagnostic criteria were assessed to determine whether diagnostic/testing criteria were met. Results: Positive rates were defined as the proportion of patients with a pathogenic mutation/likely pathogenic variant(s) and were as follows: 7.4%; for BreastNext, 7.2% for OvaNext, 9.2% for ColoNext, and 9.6% for CancerNext. Inconclusive results were found in 19.8% of BreastNext, 25.6% of OvaNext, 15.1% of ColoNext, and 23.5% of CancerNext tests. Based on information submitted;by 30% of ColoNext patients with mutations; in genes with well-established. diagnostic criteria did not meet corresponding criteria. Conclusion: Our data point to an important role for targeted multigene panels in diagnosing hereditary cancer predisposition, particularly for patients with clinical histories spanning several possible diagnoses and for patients with suspicious clinical histories not meeting diagnostic criteria for a-specific hereditary cancer syndrome.
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