Supplementary Figure 1: Pedigrees of four families in which germline SMARCA4 mutations were found.

Pedigrees were not available for familial cases FA5 and FA6. In family 1, members II:2 and III:1 correspond to samples FA1a and FA1b, respectively, in Table 1. In family 2, members II:2 and III:2 correspond to samples FA2a and FA2b, respectively, in Table 1. In family 3, members II:2 and III:1 correspond to samples FA3a and FA3b, respectively, in Table 1. In family 4, members II:2 and III:1 correspond to samples FA4a and FA4b, respectively, in Table 1. SAB, spontaneous abortion; SCCOHT, small cell carcinoma of the ovary, hypercalcemic type; YST, yolk sac tumor; PSU, cancer, primary site unknown; +/+, wild-type for the familial SMARCA4 mutation; +/− , heterozygous for the familial SMARCA4 mutation. A diagonal line through a symbol indicates that the person is deceased. Whole-exome sequencing was carried out using DNA from individuals II:1 and III:1 (family 1); II:2 and III:2 (family 2); and II:1 and III:1 (family 3). The younger age of onset in recent generations in three of the four families is noted; it is likely to be mainly attributable to ascertainment bias. Individual II:4 from family 3 is at high risk for SCCOHT and has consented to a preventive bilateral oophorectomy.