A genetic mutation/deletion causes Ewing Sarcoma, various tumours.

EWSR1 gene is responsible for cellular processes such as gene expression, cell signaling, and RNA processing and transport. So, chromosome translocation in this gene and other gene transcription factors failed, this resulted in producing of chimeric proteins which involved in tumorigenesis.

According to the Genome-Wide Association Study (GWAS) catalog 2019, the EWAR1 is mapped to the strongest SNP related to Breast Cancer, Pancreatic cancer, and Platelet count. (Ref: EWSR1 ).

The disease associated with the dysfunctional gene of EWSR1 includes Ewing Saroma and Desmoplastic Small Round Cell Tumor.

EWSR1 Chromosome 22, 22q12.2

Incidence: Generally this disease is at peak 10–20 years of age.

According to the research article of EWSR1, a multifunctional protein, regulates cellular function and aging via genetic and epigenetic pathways, mutation of EWSR1 are also associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

  • Microsatellite instability testing (MSI).
  • RNA analysis.
  • Sequence analysis of the entire coding region.

Ref(Diagnosis)