Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.

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.

• Authors: Michael F Walsh, Jennifer Kennedy, Megan Harlan, Alex Kentsis, Neerav Shukla, Jacob Musinsky, Stephen Roberts, Andrew L Kung, Mark Robson, Brian H Kushner, Paul Meyers, Kenneth Offit
• Journal: Cold Spring Harbor molecular case studies (Cold Spring Harb Mol Case Stud) Vol. 3 Issue 6 (Nov 2017) ISSN: 2373-2873 [Electronic] United States
• PMID: 28655807 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2017 Walsh et al.; Published by Cold Spring Harbor Laboratory Press.

Chemical References

• BRCA1 Protein
• BRCA1 protein, human
• BRCA2 Protein
• BRCA2 protein, human

Topics

• BRCA1 Protein (genetics)
• BRCA2 Protein (genetics, metabolism)
• Child
• Child, Preschool
• Genes, BRCA1
• Genes, BRCA2
• Genetic Predisposition to Disease (genetics)
• Genetic Privacy (ethics)
• Genetic Testing (ethics, statistics & numerical data)
• Germ-Line Mutation (genetics)
• Health Knowledge, Attitudes, Practice
• Humans
• Male
• Mutation
• Parents
• Pedigree
• Sequence Analysis, DNA