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

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.

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

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.

Sponsors & Collaborators

• Ruijin Hospital

  collaborator OTHER

• Shanghai Zhongshan Hospital

  collaborator OTHER

• Huashan Hospital

  collaborator OTHER

• Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

  collaborator OTHER

• Zhejiang Provincial People's Hospital

  collaborator OTHER

• Tongji Hospital

  collaborator OTHER

• Second Affiliated Hospital, School of Medicine, Zhejiang University

  collaborator OTHER

• Shanghai 10th People's Hospital

  collaborator OTHER

• First Affiliated Hospital, Sun Yat-Sen University

  collaborator OTHER

• Peking University First Hospital

  collaborator OTHER

• RenJi Hospital

  lead OTHER

Principal Investigators

• Jin Zhang · RenJi Hospital

Eligibility

Min Age

2 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2022-10-01

Primary Completion

2025-08-01

Completion

2025-08-01

Countries

• China

Study Locations