Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?

ABSTRACT:

Background and objective

Hereditary renal cell carcinoma (H-RCC) accounts for 5-8% of kidney cancers and has important clinical implications. However, H-RCC is frequently underdiagnosed, and genetic counselling is underutilised in clinical practice. This review provides an overview of the main H-RCC syndromes and offers a step-by-step clinical guide to support clinicians in the identification, counselling, and management of affected individuals.

Methods

A nonsystematic search of PubMed/MEDLINE was performed in June 2024 and updated in February 2025, covering guidelines, consensus statements, and original studies. Additional sources were identified via manual reference screening.

Key findings and limitations

Although H-RCC syndromes may present with overlapping feature

SUBMITTER: Re C 

PROVIDER: S-EPMC12630327 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature