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Genotype-phenotype associations among panel-based TP53+ subjects.

Huma Q Rana1,2, Jacob Clifford3, Lily Hoang3

  • 1Department of Medical Oncology, Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. HumaQ_Rana@DFCI.HARVARD.EDU.

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|May 21, 2019
PubMed
Summary

Loss-of-function variants in TP53 are linked to earlier cancer onset and Li-Fraumeni syndrome (LFS) features in individuals identified by panel testing. Genetic counseling should consider these expanded genotype-phenotype associations.

Keywords:
Li–Fraumeni syndromeTP53loss-of-functionmultigene panel testingphenotype

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Area of Science:

  • Genetics
  • Oncology
  • Clinical Diagnostics

Background:

  • Panel testing identifies individuals with pathogenic/likely pathogenic (P/LP) TP53 variants (TP53+), presenting diverse phenotypes.
  • Understanding genotype-phenotype correlations is crucial for accurate risk assessment and genetic counseling in TP53+ carriers.

Purpose of the Study:

  • To evaluate and compare genotype-phenotype associations among TP53+ subjects identified through multigene panel testing.
  • To investigate the relationship between different TP53 variant types and clinical phenotypes, including age at first cancer and specific diagnoses.

Main Methods:

  • Retrospective analysis of 317 TP53+ subjects identified between 2012-2017 with available clinical and molecular data.
  • Categorization of P/LP TP53 variants (e.g., loss-of-function, missense) and examination of their association with cancer history, age at diagnosis, and Li-Fraumeni syndrome (LFS) diagnostic criteria.

Main Results:

  • Loss-of-function (LOF) TP53 variants were significantly associated with an earlier median age at first cancer (30.5 years) compared to other variant types.
  • LOF variants showed a higher frequency of sarcoma diagnosis and increased likelihood of meeting classic LFS testing and Chompret 2015 criteria.
  • These associations were observed in TP53+ carriers identified via panel testing.

Conclusions:

  • Loss-of-function TP53 variants are more frequently linked to characteristic Li-Fraumeni syndrome cancer histories than other variant categories in panel-tested individuals.
  • Findings highlight the expanded spectrum of Li-Fraumeni syndrome phenotypes associated with TP53 variants identified through panel testing.
  • Further validation in independent cohorts is necessary; genetic counseling should incorporate these genotype-phenotype correlations.