Table 5.
Somatic mutations in patients with endometrioid (EC) ovarian carcinoma.
| Subject | Pathogenic somatic mutations | Somatic VUS |
|---|---|---|
| 1 | – | ATM (c.8428A>C p.Lys2810Gln) chr11: 108216479 A>C (hg19) rs730881325) |
| 2 | – | – |
| 3 |
ATM (c.3539_3540del: p.Val1180Glufs*19 chr11: 108151858_108151859del (hg19)) PTEN (c.202T>C: p.Tyr68His chr10: 89685307 T>C rs398123317) |
ATM (c.8672 G>A p.Gly2891Asp chr11: 108224493 G>A (hg19) rs748192003) FGFR2 (c.1840A>G: p.Met614Val chr10: 123256069 T>C (hg19) rs751047267) PTEN (c.141G>T: p.Arg47Ser chr10: 89653843 G>T) MAP2K1 (c.106_108del: p.Lys36del chr15: 66727390_66727392del (hg19)) |
| 4 |
MSH6 (exon4: c.2342del: p.Pro781HisfsTer12) MYC (exon2: c.176C>T: p.Ala59Val) KMT2C (exon34: c.5053G>T: p.Ala1685Ser) CCND1 (exon5: c.859C>T p.Pro287Ser) PTEN (exon2: c.121del: p.Arg41AspfsTer13) PTEN (exon7: c.752G>T: p.Gly251Val) KRAS (exon2: c.37G>T: p.Gly13Cys) |
KDR (exon10: c.1325 C>T: p.Thr442Met) |
| 5 |
PIK3CA (exon10: c.1633G>A p.Glu545Lys) PTEN (exon3: c.202T>C p.Tyr68His) |
– |
| 6 | TP53 (exon5: c.501delG p.Gln167HisfsTer3) | – |
| 7 | - | - |