Germline Mutations Detected in Pediatric Sequencing Studies Impact Parents' Evaluation and Care

Overview

Journal Cold Spring Harb Mol Case Stud

Specialty Genetics

Date 2017 Jun 29

PMID 28655807

Citations 9

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

Affiliations

Soon will be listed here.

Abstract

There has been no indication to test for 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 included in tumor profiling panels, germline mutations in 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 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.

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