| Familial papillary renal cell carcinoma |
| Geno
|
Mag
|
Summary
|
| (C;T)
|
5.7
|
Familial papillary renal cell carcinoma
|
| (T;T)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Familial papillary renal cell carcinoma (FPRCC) is characterized by a predisposition for developing multiple bilateral papillary renal cell carcinoma (RCCs).
- Semi-annual surveillance by CT scan should be started at age 30-35 and/or 10 years before the earlier age or onset of an RCC in the family.
- Treatment aims at controlling the risk of advanced disease, including metastasis, while at the same time preserving renal function due to the high likelihood of future de novo RCC.
- Partial nephrectomy (PN), also known as nephron-sparing surgery is now the standard method of hereditary RCC treatment.
The full ClinGen Actionability report about Familial papillary renal cell carcinoma (FPRCC) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
