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Germline Findings From Tumor-Only Comprehensive Genomic Profiling in the RATIONAL Study: A Missed Opportunity?

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Summary
This summary is machine-generated.

Comprehensive genomic profiling (CGP) frequently identifies potential germline variants in cancer susceptibility genes (CSGs). However, most patients with these findings are not referred for genetic counseling, indicating a knowledge gap among oncologists.

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Area of Science:

  • Oncology
  • Genetics
  • Genomics

Background:

  • Tumor comprehensive genomic profiling (CGP) can incidentally detect germline pathogenic/likely pathogenic (P/LP) alterations.
  • These secondary findings in cancer susceptibility genes (CSGs) have implications for patient management and family screening.
  • The RATIONAL study investigated the frequency and management of such findings in an Italian cohort.

Purpose of the Study:

  • To analyze the frequency of potentially germline variants and large rearrangements (LRs) detected via CGP.
  • To evaluate the management of these germline findings by enrolling centers in the RATIONAL study.
  • To assess the actionability of identified variants based on European Society of Medical Oncology (ESMO) recommendations.

Main Methods:

  • Patients undergoing CGP using FoundationOne CDx assays in the RATIONAL study were included.
  • Potentially germline variants in 40 CSGs were classified based on actionability (most actionable, high actionable, standard actionable).
  • Large rearrangements (LRs) in CSGs were also analyzed.

Main Results:

  • Potentially germline P/LP variants were identified in 14.4% of patients (193/1,339).
  • Large rearrangements (LRs) were detected in 3.95% of patients (53/1,339).
  • A significant gap in follow-up was observed, with 96% of patients with potentially germline variants not referred for oncogenetic consultation, including those with most actionable variants.

Conclusions:

  • CGP is valuable for identifying potentially germline variants and LRs in CSGs.
  • There is a critical need for improved oncologist awareness and training regarding the implications of germline findings from tumor-only sequencing.
  • Standardized protocols for managing incidental germline findings are essential for optimal patient care.