SMARCA4 gene

Mutations in the SMARCA4 gene may lead to a condition known as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).  This condition increases risk for ovarian cancer and often leads to an early age of onset, around the age of 25. There is also a small association with the SMARCA4 gene and the development of hereditary rhabdoid tumors, which are aggressive tumors that are seen in the kidney and central nervous system of children.  However, these tumors often are caused by mutations in other genes. It is recommended that individuals with a mutation in the SMARCA4 gene receive and MRI and sonogram of the ovary as well as consider an oophorectomy when they are finished having children.  SMAECA4 mutations are inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.