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SMARCB1

Associated conditions:

  • Nervous system/brain cancer
  • Renal/urinary tract cancer

SMARCB1 is a tumour suppressor and core part of the SWI/SNF machinery that controls which genes are switched on. Genetic changes in this gene are associated with an autosomal dominant condition called rhabdoid tumour predisposition syndrome, driving aggressive tumours of the brain and kidney, usually in early childhood. Knowing your genetic status enables imaging surveillance and prompt treatment.

Conditions linked to SMARCB1

Nervous system/brain cancer

Cancers of the nervous system and brain arise in the brain, spinal cord or their supporting tissues. Some inherited syndromes raise the risk of these tumours, so awareness supports prompt assessment of new neurological symptoms and, where indicated, imaging surveillance.

Renal/urinary tract cancer

Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.