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

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.