Related Experiment Video
Updated: Nov 6, 2025

Comparing Metastatic Clear Cell Renal Cell Carcinoma Model Established in Mouse Kidney and on Chicken Chorioallantoic Membrane
Published on: February 8, 2020
ATR and BRCA2 Simultaneous Mutation in a ccRCC With Sarcomatoid Differentiation and Extensive Metastases: A Case
Jing Yang1, Junyun Wang2, Yunshi Liang1
1Department of pathology, Guangzhou first people's hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong 510180, China.
Abstract:
The genomic landscape and driver-gene mutations differ significantly among diverse histological subtypes of clear cell renal cell carcinoma (ccRCC) due to the intratumoral heterogeneity. Frequent mutations in canonical DNA damage response genes, such as BRCA1/2 or ATR serine/threonine kinase (ATR) haven't been reported even in large-scale genomic profiling of ccRCC researches. Herein, we reported a rare ccRCC harboring ATR and BRCA2 simultaneous mutation with complicated morphologies and extensive metastases. Our case indicates that the deleterious alteration of DNA damage response genes, increasing CD8+ TILs, high PD1/PD-L1 expression and high TMB might contribute to this patient's tumor metastasis and aggressive biological behavior.
Insights
This study reports a rare clear cell renal cell carcinoma (ccRCC) with simultaneous ATR and BRCA2 mutations. These genetic alterations may drive aggressive tumor behavior and metastasis in ccRCC patients.
Area of Science:
- Oncology
- Genetics
- Genitourinary Pathology
Background:
- Clear cell renal cell carcinoma (ccRCC) exhibits significant genomic heterogeneity across subtypes.
- Canonical DNA damage response (DDR) gene mutations (e.g., ATR, BRCA1/2) are infrequently reported in ccRCC.
More Related Videos
09:24Silencing of BRCA2 to Identify Novel BRCA2-regulated Biological Functions in Cultured Human Cells
Published on: August 12, 2015
06:38A Syngeneic Mouse Model of Metastatic Renal Cell Carcinoma for Quantitative and Longitudinal Assessment of Preclinical Therapies
Published on: April 12, 2017
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cancers Originate from Somatic Mutations in a Single Cell
Targeted Cancer Therapies
There are several types of targeted therapies against...