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Updated: Oct 7, 2025

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Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A

Monica D Levine1, Rachel Pearlman2, Heather Hampel2

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Up-front multigene panel testing (MGPT) found actionable genetic variants in 10% of endometrial cancer (EC) patients. This approach aids in identifying Lynch syndrome and guiding personalized cancer treatment strategies.

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Area of Science:

  • Oncology
  • Genetics
  • Cancer Susceptibility

Background:

  • Multigene panel testing (MGPT) clinical utility depends on pathogenic variant (PV) frequency and treatment guidance.
  • The benefit of MGPT for common malignancies requires further investigation.
  • Endometrial cancer (EC) management can be improved by understanding germline genetic profiles.

Purpose of the Study:

  • To evaluate the frequency of PVs in cancer susceptibility genes using up-front MGPT in unselected EC patients.
  • To determine the clinical utility of MGPT in guiding treatment decisions and cancer prevention for EC.
  • To compare Lynch syndrome (LS) detection rates between MGPT and traditional tumor-based screening.

Main Methods:

  • Prospective enrollment of 961 newly diagnosed EC patients across nine Ohio institutions (October 2017 - December 2020).
  • Germline MGPT performed for 47 cancer susceptibility genes.
  • Comparison of LS diagnosis rates between MGPT and tumor-based screening.

Main Results:

  • Likely pathogenic variants (PVs) were identified in 10.1% (97/961) of patients.
  • Lynch syndrome (LS) was diagnosed in 3% (29/961) of patients, with PMS2 PVs being most frequent.
  • MGPT identified 9 additional LS cases missed by routine screening. BRCA1/BRCA2 PVs found in 1% of patients, enriched in type II EC.

Conclusions:

  • Up-front MGPT is supported for all EC patients, revealing actionable germline variants in 10% of unselected cases.
  • Discovery of BRCA1/BRCA2 variants in type II EC suggests targeted therapeutic opportunities for aggressive subtypes.
  • MGPT enhances LS detection and provides crucial genetic information for personalized EC management.