The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases

We report two new familial cases of SCCOHT. Affected members in both families and the associated tumours were found to carrySMARCA4 germline and somatic mutations, respectively, leading to loss of SMARCA4 protein expression in the tumours. Despite the rarity of familial SCCOHT, the high incidence of germline mutations is important to note, as without a family history of the disease, the hereditary nature of SCCOHT may be missed, especially if the mutation was inherited from the father or acquired de novo. The similarity between SCCOHT and rhabdoid tumours should be recognized, as infant carriers ofSMARCA4 mutations may be at risk for these tumours in addition to SCCOHT.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research