When do you refer patients for germline testing when somatic tumor testing is negative for actionable mutations?
How reliable is somatic testing to detect an underlying germline predisposition?
2 Answers
Mednet MemberInvited Expert
Medical Oncology · University of Minnesota–Masonic Cancer Center
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Somatic (tumor-only) testing should not be used to conclusively rule in or rule out the presence of a germline pathogenic/likely pathogenic alteration. While most germline sequence alterations (point mutations, small insertions/deletions) will be detected on tumor-only testing, this may miss chromos...
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Pediatric Hematology/Oncology · UPMC Children’s Hospital of Pittsburgh
Answered on
Recommendations in children with cancer are moving toward cancer predisposition evaluations in the absence of a family history as well. As the parents and grandparents of children with cancer may be relatively young at the child's diagnosis, a low or moderate penetrance cancer predisposition syndrom...
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