Table 2 SMARCA4 mutations found in two patients with ovarian small cell carcinoma of hypercalcemic type
From: Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type
Age | FIGO stage | SMARCA4 expression a | SMARCA4 mutation | ||
|---|---|---|---|---|---|
Tumor DNA | Germline DNA | ||||
Proband 1 | 35 | IIIB | Negative | Exon 26 c.3760G > T; p.(Glu1254*) (homozygous) | Heterozygous |
Proband 2 | 21 | IV | Negative | Exon 16 c.2352insG; p.(Lys785Glufs*39) (homozygous) | Heterozygous |