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Related Experiment Video

Updated: Jun 5, 2026

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
07:59

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

Germline Cancer Testing in Unselected Patients With Neuroendocrine Neoplasms: A Multi-center Prospective Study.

Oluseyi Abidoye1, Michael Golafshar2, Katie Kunz2

  • 1Mayo Clinic Cancer Center, Arizona.

Pancreas
|June 4, 2026
PubMed
Summary

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This summary is machine-generated.

Universal germline testing found pathogenic germline variants (PGVs) in over 15% of neuroendocrine neoplasm (NEN) patients. This supports broader genetic testing for treatment guidance and family risk assessment.

Area of Science:

  • Oncology
  • Genetics
  • Cancer Predisposition Syndromes

Background:

  • Neuroendocrine neoplasms (NENs) exhibit an increasing recognition of hereditary patterns.
  • The prevalence and clinical significance of pathogenic germline variants (PGVs) in unselected NEN patients are not well-established.
  • Current genetic testing criteria may not capture all individuals with hereditary NENs.

Purpose of the Study:

  • To determine the prevalence of PGVs in a diverse cohort of unselected NEN patients.
  • To evaluate the clinical utility of universal multi-gene panel testing for NENs.
  • To assess the impact of PGVs on treatment decisions and familial risk assessment.

Main Methods:

  • Prospective, multicenter study enrolling unselected NEN patients.
Keywords:
GERMLINE TESTINGNeuroendocrine neoplasmsPathogenic germline variants

Related Experiment Videos

Last Updated: Jun 5, 2026

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
07:59

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

  • Germline genetic testing using a next-generation sequencing panel of up to 84 cancer predisposition genes.
  • Analysis of clinical and demographic data, with variants classified as PGVs, variants of uncertain significance (VUS), or negative.
  • Main Results:

    • Pathogenic germline variants (PGVs) were identified in 15.9% of 88 unselected NEN patients.
    • Most frequent PGVs were in MEN1, CHEK2, MITF, and MUTYH genes, particularly in pancreatic (21.8%) and small bowel (10%) NENs.
    • Over 35% of PGV-positive patients did not meet current NCCN or ACMG testing criteria, highlighting the limitations of traditional guidelines.

    Conclusions:

    • Universal germline testing in unselected NEN patients reveals a significant prevalence of clinically relevant PGVs.
    • These findings advocate for expanded genetic testing strategies to guide NEN management.
    • Broader testing facilitates improved familial risk assessment and cascade testing irrespective of traditional clinical criteria.