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Related Concept Videos

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Related Experiment Video

Updated: Sep 18, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Missed opportunities: Germline testing following tumor sequencing.

Hannah C Karpel1, Simone Sasse2, Bhavana Pothuri1

  • 1New York University, Department of Obstetrics and Gynecology, New York, NY, USA.

Gynecologic Oncology
|June 24, 2025
PubMed
Summary

Many patients eligible for germline genetic testing (GT) based on tumor next-generation sequencing (NGS) results do not receive it, often due to lack of referral. This missed opportunity can delay diagnosis of hereditary cancer syndromes.

Keywords:
ESMOGermline genetic testingHereditary cancer riskTumor next generation sequencing

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Area of Science:

  • Oncology
  • Genetics
  • Cancer Research

Background:

  • Tumor next-generation sequencing (NGS) can reveal potential germline DNA mutations linked to cancer susceptibility.
  • Identifying these mutations is crucial for understanding hereditary cancer syndromes and guiding treatment decisions.

Purpose of the Study:

  • To determine the frequency of actionable germline mutations identified via tumor NGS in patients meeting ESMO 2019 guidelines for germline genetic testing (GT).
  • To investigate the reasons why eligible patients do not undergo germline GT.
  • To assess the proportion of patients with actionable mutations who were not referred for GT.

Main Methods:

  • Retrospective study of patients undergoing tumor NGS between September 2019 and February 2022.
  • Identification of patients meeting ESMO guidelines for potentially actionable germline mutations.
  • Analysis of reasons for not undergoing germline GT among eligible patients.

Main Results:

  • Of 3470 patients, 326 (9.4%) had potential actionable germline mutations on tumor NGS.
  • 189 (58.0%) eligible patients did not receive germline GT, most commonly due to lack of referral (67.2%).
  • Among those not referred, 50.4% had mutations in BRCA1/2 and/or Lynch syndrome genes; 62.8% of those who did undergo GT were positive.

Conclusions:

  • A significant proportion (60%) of patients eligible for germline GT based on ESMO criteria did not receive it, primarily due to insufficient referrals.
  • Over half of patients not referred for GT harbored mutations in well-known cancer susceptibility genes (e.g., BRCA1/2).
  • Improved education on germline eligibility and implementation of reflex clinical protocols are necessary to ensure timely genetic testing.