©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRenal cancer [susceptibility]

Summary

Short information

A curated panel containing 4 guideline-curated genes and altogether 31 curated genes for the comprehensive analysis of the genetic susceptibility for Renal cancer

ID
NP0840
Number of genes
29 Accredited laboratory test
Examined sequence length
29,3 kb (Core-/Core-canditate-Genes)
52,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BAP12190NM_004656.4AD
FH1533NM_000143.4AD, Sus
FLCN1740NM_144997.7AD, Sus
HNF1A1896NM_000545.8AD, Sus
HNF1B1674NM_000458.4Sus
MET4227NM_001127500.3AD, Sus
MLH12271NM_000249.4AD, Sus
MSH22805NM_000251.3AD, Sus
MSH64083NM_000179.3AD, Sus
PMS22589NM_000535.7Sus, AD
PTEN1212NM_000314.8AD
SDHB843NM_003000.3AD
VHL642NM_000551.4AD
WT11569NM_024426.6Sus
CCND1888NM_053056.3Sus
CDC731596NM_024529.5AD
CDKN2B417NM_004936.4AD
EPCAM945NM_002354.3AD, Sus
MITF1260NM_000248.4AD
OGG11038NM_002542.6Sus, SMu
RNF1391995NM_007218.4n.k.
SDHA1995NM_004168.4Sus
SDHAF2501NM_017841.4AD
SDHC510NM_003001.5AD
SDHD480NM_003002.4AD, AR, Sus
SLC49A41437NM_032839.3AD, Sus
TMEM127717NM_017849.4AD
TSC13495NM_000368.5AD
TSC25424NM_000548.5AD

Informations about the disease

Clinical Comment

Hereditary renal carcinomas could account for 5-8% of all renal carcinomas. The majority of primary renal malignancies are renal cell carcinomas, which many times have an early age of onset (≥45 years), typical histology and often bilaterality and multicentricity of the primary tumors. Wilms tumor (nephroblastoma) is the most common renal tumor of childhood. More than 15 syndromes with inherited susceptibility to renal cancer have been identified, and there are more than 25 known genes associated with these syndromes. Most renal malignancies are dominantly inherited. The aggressiveness of inherited renal cell carcinomas varies depending on the syndrome and the mutations. Susceptibility to renal cancer can be caused by a high-risk, moderate-risk or low-risk gene mutations. The diagnostic yield obtained by molecular genetic methods is currently unknown. Thus, a negative result does not represent any exclusion of the clinical diagnosis.

Reference: DOI: 10.5772/intechopen.91933

 

Synonyms
  • Alias: Inherited renal cancer-predisposing syndrome
  • Alias: Renal cell carcinoma, clear cell, somatic
  • Allelic: Colorectal cancer, hereditary nonpolyposis 1-4 (MLH1, MSH2, MSH6, PMS2)
  • Allelic: Colorectal cancer, somatic (FLCN)
  • Allelic: Colorectal cancer, susceptibility to (CCND1)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Deafness, AR 97 (MET)
  • Allelic: Denys-Drash syndrome (WT1)
  • Allelic: Diabetes mellitus, insulin-dependent, 20 (HNF1A)
  • Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
  • Allelic: Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
  • Allelic: Erythrocytosis, familial, 2 (VHL)
  • Allelic: Frasier syndrome (WT1)
  • Allelic: Fumarase deficiency (FH)
  • Allelic: Gastrointestinal stromal tumor (SDHB)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Goiter, multinodular 1, +/- Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
  • Allelic: Hepatic adenoma, somatic (HNF1A)
  • Allelic: Hepatocellular carcinoma, childhood type, somatic (MET)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: MODY, type III (HNF1A)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Meacham syndrome (WT1)
  • Allelic: Meningioma (PTEN)
  • Allelic: Mesothelioma, somatic (WT1)
  • Allelic: Muir-Torre syndrome (MLH1, MSH2)
  • Allelic: Multiple myeloma, susceptibility to (CCND1)
  • Allelic: Nephrotic syndrome, type 4 (WT1)
  • Allelic: Osteofibrous dysplasia, susceptibility to (MRT)
  • Allelic: Paraganglioma + gastric stromal sarcoma (SDHB)
  • Allelic: Paragangliomas 4 (SDHB)
  • Allelic: Pheochromocytoma (SDHB)
  • Allelic: Pheochromocytoma (VHL)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Pneumothorax, primary spontaneous (FLCN)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Renal cysts + diabetes syndrome (HNF1B)
  • Birt-Hogg-Dube syndrome (FLCN)
  • Leiomyomatosis + renal cell cancer (FH)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Renal carcinoma, chromophobe, somatic (FLCN)
  • Renal cell carcinoma (HNF1A, HNF1B)
  • Renal cell carcinoma, papillary (PRCC)
  • Renal cell carcinoma, papillary, 1, familial + somatic (MET)
  • Renal cell carcinoma, somatic (VHL)
  • Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Tumor predisposition syndrome (BAP1)
  • Wilms tumor, type 1 (WT1)
  • von Hippel-Lindau syndrome (VHL)
  • von Hippel-Lindau syndrome, modifier of (CCND1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined