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


Authors: Walsh, M. F.; Kennedy, J.; Harlan, M.; Kentsis, A.; Shukla, N.; Musinsky, J.; Roberts, S.; Kung, A. L.; Robson, M.; Kushner, B. H.; Meyers, P.; Offit, K.
Article Title: 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. © 2017 Walsh et al.; Published by Cold Spring Harbor Laboratory Press.
Keywords: osteosarcoma; child; preschool child; child, preschool; genetics; mutation; case report; metabolism; genetic predisposition to disease; attitude to health; brca1 protein; brca2 protein; pedigree; tumor suppressor gene; neuroblastoma; genes, brca1; genes, brca2; dna sequence; health knowledge, attitudes, practice; genetic predisposition; genetic screening; brca1 protein, human; germ-line mutation; genetic testing; ethics; parents; parent; utilization; sequence analysis, dna; germline mutation; genetic privacy; brca2 protein, human; humans; human; male
Journal Title: Cold Spring Harbor Molecular Case Studies
Volume: 3
Issue: 6
ISSN: 2373-2873
Publisher: Cold Spring Harbor Laboratory Press  
Date Published: 2017-11-01
Start Page: a001925
Language: English
DOI: 10.1101/mcs.a001925
PUBMED: 28655807
PROVIDER: scopus
PMCID: PMC5701310
DOI/URL:
Notes: Article -- Export Date: 1 February 2018 -- Source: Scopus
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MSK Authors
  1. Brian Kushner
    168 Kushner
  2. Kenneth Offit
    434 Offit
  3. Mark E Robson
    322 Robson
  4. Paul Meyers
    223 Meyers
  5. Neerav Shukla
    57 Shukla
  6. Stephen Stacy Roberts
    33 Roberts
  7. Alex   Kentsis
    34 Kentsis
  8. Michael Francis Walsh
    37 Walsh
  9. Andrew L Kung
    13 Kung