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Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
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Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.

Mariarosaria Calvello1, Monica Marabelli1, Sara Gandini2

  • 1Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.

Genes
|May 27, 2023
PubMed
Summary
This summary is machine-generated.

Genetic testing for gastric cancer (GC) is evolving. Multigene panel testing (MGPT) identifies more pathogenic variants (PVs) in hereditary cancer genes, including homologous recombination (HR) repair genes, compared to single-gene testing (SGT).

Keywords:
BRCA1BRCA2CDH1MSH2gastric cancerhereditary diffuse gastric cancer syndromehomologous recombination DNA repair genesmultigene panel testing

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Area of Science:

  • Oncology
  • Genetics
  • Cancer Research

Background:

  • Gastric cancer (GC) is underrepresented in hereditary cancer research.
  • Single-gene testing (SGT) was the traditional method for identifying high-risk individuals.
  • Multigene panel testing (MGPT) is emerging, prompting investigation into additional genes, including homologous recombination (HR) repair genes.

Purpose of the Study:

  • To evaluate the utility of genetic counseling and testing in gastric cancer (GC) patients.
  • To compare the diagnostic yield of SGT versus MGPT in identifying pathogenic variants (PVs).
  • To explore the role of HR repair genes in hereditary GC.

Main Methods:

  • Conducted genetic counseling and SGT for 54 GC patients.
  • Performed MGPT on 37 GC patients.
  • Analyzed PVs and variants of unknown significance (VUSs) in genes including CDH1, BRCA1, BRCA2, MSH2, ATM, and RAD51D.
  • Assessed the correlation between PVs and family history of GC or Lynch-related tumors.

Main Results:

  • SGT identified PVs in 16.7% of patients, with CDH1, BRCA2, BRCA1, and MSH2 being implicated.
  • MGPT identified PVs in 13.5% of patients, with 60% of these in HR genes (BRCA2, ATM, RAD51D).
  • A significant association was found between PV carriers and a family history of GC (p=0.045) or Lynch-related tumors (p=0.036).
  • MGPT revealed VUSs in 35.1% of patients.

Conclusions:

  • Genetic counseling is crucial for GC risk assessment.
  • MGPT offers advantages for patients with unspecific phenotypes, detecting PVs in HR genes.
  • The study highlights the importance of comprehensive genetic testing in hereditary GC.