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Background   SMARCA4  mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previously.    Methods  We looked for germline  SMARCA4  alterations in eight patients with the SCCHT. DNA was extracted from probands’ and their relatives’ blood. The  SMARCA4  coding sequence, previously found altered in all the tumors, was PCR amplified and sequenced in the germline DNA.    Results  Two patients carried a heterozygous germline  SMARCA4  alteration: c.3760G > T and c.2352insG, respectively. The analysis of the probands’ next of kins revealed that the c.3760G > T mutation was inherited by the proband and her sister from their father, and the sisters’ four children also carried the mutation. The proband’s sister was diagnosed with a carcinoma of the parotid gland at age 2. A brother of the other proband was tested negative.    Conclusions  Our study suggests that some women develop the ovarian SCCHT due to the inherited or possibly  de novo -occurring germline alterations in the  SMARCA4  gene, however, its penetrance appears limited. Nevertheless, because of high aggressiveness of the SCCHT, a molecular diagnostics of the  SMARCA4  gene and careful follow-up should be offered to patients with this cancer and their families.

Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type