What is it about?

This research discusses the complexities of genetic assessments for renal cell carcinoma (RCC), often resulting in uninformative outcomes where no heritable genetic variant is identified. It highlights the challenge of determining optimal surveillance strategies for patients and their relatives due to the unclear role of environmental and unidentified genetic factors. The piece notes that early RCC detection significantly improves prognosis, with imaging tests shifting stage at diagnosis. It emphasizes the heightened relative risk of RCC in individuals with a family history, particularly when both a parent and sibling are affected. A UK Cancer Genetics Group consensus meeting recommended surveillance for certain high-risk relatives, advocating for ultrasound scans every 2-3 years. This research underscores the need for flexible surveillance strategies, especially for relatives of early-onset RCC cases, despite the absence of a national RCC screening program.

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Why is it important?

This perspective highlights the complexities surrounding genetic assessment and surveillance strategies for renal cell carcinoma (RCC) in cases where hereditary conditions are not identifiable. This research discusses the challenges in determining optimal surveillance for patients and their relatives, emphasizing the need for a nuanced approach given the lack of consensus and existing national screening programs. It underscores the importance of multidisciplinary collaboration and tailored surveillance strategies to enhance early detection and management of RCC, particularly in individuals with a family history of the disease. Key Takeaways: 1. This Perspective highlights that genetic assessments for RCC often yield uninformative results, complicating the determination of heritable risk factors and subsequently impacting surveillance strategies for affected individuals and their relatives. 2. This research discusses the increased relative risk of RCC in individuals with family history, as demonstrated by studies like the Swedish Family Cancer Database, which reports significant incidence ratios compared to other known risk factors such as smoking and obesity. 3. The work presents a viewpoint on the need for a tailored approach to RCC surveillance, suggesting ultrasound scanning intervals of 2-3 years for certain high-risk individuals and emphasizing the role of multidisciplinary team discussions in cases of suspected syndromic predispositions.

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This page is a summary of: Surveillance for individuals with a strong family history of kidney cancer but no identified heritable disease: a UK consensus, BJU International, March 2025, Wiley,
DOI: 10.1111/bju.16667.
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