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

IF 2.2 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2025-12-01 Epub Date: 2025-11-19 DOI:10.1016/j.ejmg.2025.105062

Sophie Giraud , Pascaline Berthet , Caroline Abadie , Nadine Andrieu , Patrick R. Benusiglio , Valérie Bonadona , Olivier Caron , Carole Corsini , Isabelle Coupier , Louise Crivelli , Capucine Delnatte , Pierre Devulder , Antoine DE Pauw , Sophie Dussart , Anne-Paule Gimenez-Roqueplo , Sophie Lejeune-Dumoulin , Jessica Moretta , Marie Muller , Julie Tinat , Stéphane Richard , Nelly Burnichon

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引用次数: 0

Abstract

Introduction

Renal cancers are inherited in about 5 % of cases and are associated with several genetic syndromes. Genetic testing is recommended for selected patients suspected of having hereditary syndromes. In the absence of guidelines regarding which genes should be included for carrying out genetic screening of these individuals, discrepancies existed among the next generation sequencing (NGS) multi-gene panels (MGP) used in French laboratories. There was therefore a clear need to standardise practices and offer patients with renal cancer a consensus-based genetic testing in France.

Methods

A working group comprising national experts from the French Genetic and Cancer Group Unicancer (GGC) and from the French network on Hereditary PREDIspositions to Renal Cancer (PREDIR) and encompassing medical geneticists, genetic counsellor, molecular biologists and epidemiologists was established. The objective was to define a list of clinically relevant genes that should be included in a “GGC-PREDIR” approved NGS MGP for patients with renal cancer.

A list of 32 genes of interest was compiled following an exhaustive and critical review of the literature. The inclusion or exclusion of each gene was determined based on available data regarding risk, prevalence and analyses published from large studies of patients.

Results

The French group of experts defined a list of 12 genes of clinical and genetic counselling relevance comprising BAP1, FH, FLCN, MET, PTEN, SDHA, SDHB, SDHC, SDHD, TSC1, TSC2 and VHL to be included in the national recommended “renal cancer” NGS MGP. For each of these genes, recommendations for renal surveillance are proposed.

Conclusion

Unlike hereditary predisposition to breast or colon cancer, hereditary renal cancer predispositions are rare syndromes and risk estimates are lacking for most of them. Prospective studies are needed to improve our knowledge.

The GGC-PREDIR experts retained 12 genes for inclusion in the NGS MGP for renal cancer patients. However, the panel will be expanded on the basis of regularly updated data from the medical literature.

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法国关于肾细胞癌多基因面板检测的建议

肾癌在约5%（ %）的病例中是遗传性的，并与几种遗传综合征相关。建议对疑似患有遗传性综合征的特定患者进行基因检测。由于缺乏关于在对这些个体进行遗传筛选时应包括哪些基因的指导方针，法国实验室使用的下一代测序（NGS）多基因面板（MGP）之间存在差异。因此，在法国，显然有必要将实践标准化，并为肾癌患者提供基于共识的基因检测。方法成立了一个工作组，由法国遗传和癌症小组（GGC）和法国肾癌遗传易感性网络（PREDIR）的国家专家组成，包括医学遗传学家、遗传咨询师、分子生物学家和流行病学家。目的是确定一份临床相关基因清单，这些基因应该包含在“GGC-PREDIR”批准的用于肾癌患者的NGS MGP中。在对文献进行详尽和批判性的回顾之后，编制了一份32个感兴趣基因的清单。每个基因的纳入或排除是根据有关风险、患病率和发表于大型患者研究的分析的现有数据确定的。结果法国专家组确定了BAP1、FH、FLCN、MET、PTEN、SDHA、SDHB、SDHC、SDHD、TSC1、TSC2、VHL等12个与临床和遗传咨询相关的基因清单，纳入国家推荐的“肾癌”NGS MGP。对于每一种基因，建议进行肾脏监测。结论与乳腺癌和结肠癌的遗传易感性不同，肾癌的遗传易感性是一种罕见的综合征，大多数缺乏风险评估。需要前瞻性研究来提高我们的知识。GGC-PREDIR专家保留了12个基因用于肾癌患者的NGS MGP。然而，该小组将在定期更新医学文献数据的基础上扩大。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.