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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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French recommendations on multi-gene panel testing in renal cell carcinoma.

Sophie Giraud1, Pascaline Berthet2, Caroline Abadie3

  • 1Unité d'oncogénétique, Département de Biopathologie, Institut Bergonié, Bordeaux, 33000, France; Service d'oncologie médicale et oncogénétique, Centre hospitalier de la Côte basque, Bayonne, 64109, France; Réseau national de référence pour cancers rares de l'adulte PREDIR labellisé par l'Institut national du cancer (INCa), France.

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|November 21, 2025
PubMed
Summary

Hereditary renal cancer predispositions are rare. Experts established a consensus-based list of 12 genes for next-generation sequencing multi-gene panels to standardize genetic testing for renal cancer patients in France.

Keywords:
Genetic testingMultigene panelPredispositionRecommendationsRenal cancer

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Area of Science:

  • Oncology
  • Genetics
  • Medical Research

Background:

  • Hereditary renal cancer accounts for approximately 5% of cases and is linked to genetic syndromes.
  • Genetic testing is recommended for individuals suspected of hereditary cancer syndromes.
  • Lack of standardized genetic testing guidelines led to variations in next-generation sequencing multi-gene panels (NGS MGP) across French laboratories.

Purpose of the Study:

  • To establish a consensus-based list of clinically relevant genes for a national NGS MGP for renal cancer patients in France.
  • To standardize genetic testing practices for hereditary renal cancer.

Main Methods:

  • A working group of national experts (GGC-PREDIR) was formed, including medical geneticists, genetic counselors, molecular biologists, and epidemiologists.
  • An exhaustive literature review identified 32 potential genes of interest.
  • Gene inclusion or exclusion was based on data regarding risk, prevalence, and large-scale patient studies.

Main Results:

  • A list of 12 clinically relevant genes was defined for the national "renal cancer" NGS MGP: BAP1, FH, FLCN, MET, PTEN, SDHA, SDHB, SDHC, SDHD, TSC1, TSC2, and VHL.
  • Recommendations for renal surveillance were proposed for each included gene.

Conclusions:

  • Hereditary renal cancer predispositions are rare, and risk estimates are often lacking.
  • Prospective studies are necessary to enhance understanding of these rare syndromes.
  • The GGC-PREDIR expert panel identified 12 genes for the NGS MGP, with plans for future expansion based on updated medical literature.