Table 2.

Conditions associated with SMARCB1 and SMARCA4 germline mutations

SMARCB1 carriersMutation type
Rhabdoid tumorLoFa
SchwannomatosisLoF and missense
Multiple meningiomasMissense
Nicolaides–Baraitser syndromeMissense
Coffin–Siris syndromeMissense
MPNSTLoF
SMARCA4 carriersMutation type
MRTLoF
AT/RTLoF
SCCOHTLoF
Coffin–Siris syndromeMissense
  • Abbreviations: LoF, loss of function; MPNST, malignant peripheral nerve sheath tumor; SCCOHT, small cell carcinoma of the ovary, hypercalcemic type.

  • aOne missense mutation has been seen (31).