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Multigene panel tests (MGPTs) identify more TP53 carriers with Li-Fraumeni syndrome (LFS) who are older at diagnosis and less likely to meet traditional LFS criteria. This suggests a broader LFS spectrum, impacting genetic counseling and risk assessment.

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Area of Science:

  • Genetics
  • Oncology
  • Clinical Diagnostics

Background:

  • Li-Fraumeni syndrome (LFS) diagnosis traditionally relied on TP53 single-gene testing (SGT) based on clinical criteria.
  • The advent of multigene panel tests (MGPTs) has altered the landscape of genetic testing for LFS.

Purpose of the Study:

  • To compare the personal and family cancer histories of TP53-positive (TP53+) individuals identified via MGPT versus SGT.
  • To evaluate phenotypic differences between TP53+ carriers detected by different testing modalities.

Main Methods:

  • Retrospective analysis of 44,086 individuals tested for TP53 between 2010-2014 (40,885 MGPT, 3,201 SGT).
  • Comparison of germline TP53 results and phenotypic manifestations based on test type.
  • Analysis of personal cancer histories for 38,938 subjects.

Main Results:

  • MGPT-identified TP53+ individuals were older at first cancer diagnosis (median 36 years for women, 40 for men) compared to SGT-identified carriers (median 28 years for women, 15 for men).
  • Median age of breast cancer diagnosis was 40 years for MGPT+ women versus 33 years for SGT+ women.
  • MGPT TP53+ individuals were less likely to meet established LFS clinical criteria.

Conclusions:

  • TP53+ individuals identified by MGPT exhibit distinct phenotypes compared to those identified by SGT.
  • LFS may encompass a wider phenotypic spectrum than previously recognized.
  • Findings necessitate re-evaluation of LFS counseling and cancer risk assessment for MGPT-identified carriers.