Germline BRCA2 mutations detected in pediatric sequencing studies impact parents’ evaluation and care
- Michael F. Walsh1,2,
- Jennifer Kennedy2,
- Megan Harlan2,
- Alex Kentsis1,
- Neerav Shukla1,
- Jacob Musinsky2,
- Stephen Roberts1,
- Andrew L. Kung1,
- Mark Robson1,
- Brian H. Kushner1,
- Paul Meyers1 and
- Kenneth Offit2
- 1Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA;
- 2Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
- Corresponding author: walshm2{at}mskcc.org
Abstract
There has been no indication to test for BRCA1/2 in children (with the rare exception of Fanconi anemia) as screening begins in adult years and there is a potential to induce anxiety related to adult-onset cancers. However, in the setting of pediatric cancer, with increasing utility and frequency of companion tumor-normal sequencing without regard for phenotype and with BRCA1/2 included in tumor profiling panels, germline mutations in BRCA1/2 and other DNA damage repair genes have been found. When mutations in these genes are revealed, there are implications for immediate family members. Here we present two children in whom BRCA2 mutations identified through tumor sequencing prompted parental genetic testing and medical action. These cases illustrate the potential importance of including a matched normal DNA sample when performing tumor profiling of pediatric cancer patients to ensure optimal care.
- Received February 17, 2017.
- Accepted June 6, 2017.
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