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Genetic predisposition to kidney cancer
Laura S Schmidt1, W Marston Linehan2
1Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD; Basic Science Program, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD.
Seminars in Oncology
|December 1, 2016
Summary
Inherited kidney cancer involves various types, each with unique genetic causes and pathways. Understanding these inherited renal cell carcinoma (RCC) syndromes is key for diagnosis and management.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Kidney cancer encompasses diverse histological types with distinct clinical behaviors and genetic underpinnings.
- Family studies have been crucial in identifying causative genes and metabolic pathways implicated in inherited renal cell carcinoma (RCC).
Purpose of the Study:
- To review the clinical features, genetic basis, and affected pathways of various inherited renal cell carcinoma syndromes.
- To outline recommended clinical management strategies for patients with these inherited conditions.
Main Methods:
- Literature review of studies on inherited renal cancer syndromes.
- Synthesis of information on clinical presentation, genetic mutations, and molecular pathways.
- Compilation of current clinical management guidelines.
Main Results:
- Identified key inherited RCC syndromes: Von Hippel-Lindau disease, hereditary papillary RCC, Birt-Hogg-Dube syndrome, hereditary leiomyomatosis and RCC, succinate dehydrogenase-associated RCC, BAP1-associated tumor predisposition syndrome, and MiTF-associated cancer syndrome.
- Detailed the specific causative genes and dysregulated pathways for each syndrome.
- Highlighted the variability in presentation and clinical course among different inherited RCC types.
Conclusions:
- Inherited renal cell carcinoma syndromes are a significant group of kidney cancers with identifiable genetic causes.
- Accurate diagnosis and understanding of molecular pathways are essential for effective patient management and potential targeted therapies.
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