Renal cancer, also known as kidney cancer, is a combination of multiple types of cancers that occur in the kidney. The two most common types of kidney cancers are renal cell cancer (RCC) and transitional cell cancer (TCC), which are usually detected in adults, while the nephroblastoma (Wilms tumor) is constantly detected in the child. RCC is a malignant tumor that originates in the renal tubular urinary tubular epithelial system. RCC accounts for about 2% to 3% of adult malignant tumors, and accounts for 80% to 90% of adult kidney cancer, with the increased incidence rates in the United States. Smoking, obesity and hypertension are major factors for renal cell cancer. TCC accounts for about 90% of bladder cancer and has different degrees of differentiation, ranging from well-differentiated papillary non-invasive cancer to highly undifferentiated invasive carcinoma.
Von Hippel-Lindau (VHL), is one of the hereditary kidney cancer syndromes, which is associated with the germline mutation in VHL gene mapping on chromosome 3p. When the VHL gene is mutated, the VHL complex cannot target and degrade hypoxia-inducible factors (HIF), leading to the accumulation of HIF. The accumulation of HIF-2α has the suspicion of promoting tumor development. The mesenchymal-epithelial transition factor proto-oncogene (MET) encoding the cell surface receptor for hepatocyte growth factor is associated with hereditary papillary renal cell carcinoma. In addition to these, FLCN, FH, TSC1/TSC2, PTEN and BHD genes are identified to be related to hereditary kidney cancer syndromes. The BHD mutation is not common and is only seen in sporadic renal cell carcinoma. The pathogenic variants in BAP1, PBRM1, SDHA, SDHB and FH are reported to be related to RCC. The mutations in BAP1 and PBRM1 are mutually exclusive. Furthermore, BAP1 mutations may be detected in high-grade disease, while PBRM1 mutations tend to a lower-grade disease. The mutations in succinate dehydrogenase (SDH) and fumarate hydratase (FH) genes cause the increase of succinic acid levels and the accumulation of the HIF1α protein.
CD-Genomics provides a custom renal cancer panel platform with the advantage of time-saving and cost-effectiveness. Amplicon sequencing technology by Illumina MiSeq system/Ion PGM system is provided to help the efficient discovery in the study of disease-related genes. You can select the genes only you require. If you want to add other genes you want in a customized renal cancer panel, contact us, and we can help you.
For more information about the Custom Renal Cancer Panel or need other amplification requirements, please contact us.