NCT05534854

Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 500 (estimated)
• Sponsor: RenJi Hospital · Academic / Other
• Sex: All
• Age: 2 Years
• Healthy volunteers: Accepted

Summary

This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline kidney cancer will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated. This research will have a significant impact on the overall management of heritable kidney cancer syndromes patients and family members who are at risk for heritable kidney cancer syndromes. The study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. In addition this study could have impact on the management of patients with personal and/or family history of heritable kidney cancer syndromes.

Detailed description

Background: • The genetic etiology of heritable kidney cancer syndromes remains to be determined. Objectives: * Define the risk of developing renal cance in heritable kidney cancer syndromes * Define the types and characteristics (including patterns of growth) of heritable kidney cancer syndromes. * Determine genotype/phenotype correlations. * To characterize the natural and clinical histories of heritable kidney cancer syndromes. * To determine the genetic etiology of heritable kidney cancer syndromes. Design: * These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors. * Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations. * To determine if there is a relationship between mutation and disease manifestations and phenotype.

Conditions

• Renal Tumor Histology
• Kidney Cancer
• Renal Cell Carcinoma
• Familial Renal Cancer
• HLRCC
• VHL Syndrome
• BAP1 Tumor Predisposition Syndrome
• FLCN Gene Mutation
• ALK Gene Mutation
• FH Gene Mutation
• Birt-Hogg-Dube Syndrome
• MET Gene Mutation
• Cutaneous Leiomyoma
• Cutaneous Leiomyomata With Uterine Leiomyomata

Interventions

Type	Name	Description
GENETIC	Gene test	Next generation sequencing of blood, urine and/or benign and malignant tissue of patients and family members with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease.

Timeline

• Start date: 2022-10-01
• Primary completion: 2025-08-01
• Completion: 2025-08-01
• First posted: 2022-09-10
• Last updated: 2023-08-31

Locations

1 site across 1 country: China