Related Experiment Video
Updated: Sep 13, 2025
12:22
The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
Published on: January 22, 2013
33.7K
Predictive Clinical Features in Germline Testing for Renal Cell Carcinoma
Alexis Rompré-Brodeur1, Nikhil Gopal1, Braden Millan1
1Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Urology
|August 1, 2025
Summary
Germline genetic testing for renal cell carcinoma (RCC) is more likely to detect alterations in patients with early onset (EO), bilateral multifocal (BMF), or family history of renal cancer (FRC). Each additional feature nearly doubles the odds of finding a germline variant.
Area of Science:
- Oncology
- Genetics
- Genomic Medicine
Background:
- Renal cell carcinoma (RCC) risk is influenced by germline genetic alterations.
- Identifying these alterations can inform patient management and family screening.
- Specific clinical features may indicate an increased likelihood of germline predisposition.
Purpose of the Study:
- To determine the frequency of germline alterations in a selected RCC patient cohort.
- To evaluate the predictive value of clinical enrichment features for identifying pathogenic germline variants.
- To assess the utility of germline genetic panel testing in specific RCC populations.
Main Methods:
- A cohort of 380 patients with new renal mass diagnoses were evaluated.
- 245 patients underwent germline genetic panel testing.
- Clinical enrichment features including early onset (EO), bilateral multifocal (BMF), and family history of renal cancer (FRC) were assessed for predictive accuracy.
Main Results:
- Of 245 patients, 217 (88.6%) had at least one enrichment feature (EO, BMF, or FRC).
- Germline panel testing was positive in 13.5% of patients.
- The presence of multiple enrichment features significantly increased the likelihood of a positive result (36.4% with 3 features vs. 7.1% with none).
- Each additional enrichment feature nearly doubled the odds of identifying a germline variant (OR=1.82, P=.02). Female sex was also predictive (OR=2.80, P=.015).
Conclusions:
- Patients with early onset, bilateral multifocal disease, or a family history of RCC represent an enriched population for germline alterations.
- The cumulative effect of these features strongly predicts the presence of germline variants.
- Germline gene panel testing is supported in these high-risk RCC populations.
