Table 1.
Recurrent mutations identified in 64 CSs
Gene name | No. recurrent | Status | Recurrent sites | Previously seen in gyn. carcinomas |
TP53 | 19 | Missense, nonsense, and indel | I63F,R342P,R210R,S109Y,R141H,V84M/indel,R150W,G113D,R196stop | Yes |
KRAS | 9 | Missense | G12D,G12V,G12C | Yes |
PIK3CA | 8 | Missense | H1047R, E542K,R93W | Yes |
PTEN | 5 | Missense and nonsense | R130G, R130stop | Yes |
CHD4 | 3 | Missense | R1162Q | Yes |
PPP2R1A | 3 | Missense | P179R | Yes |
BCOR | 2 | Missense | N1459S | Yes |
HIST1H2AB | 2 | Missense | E57Q | No |
The “Recurrent sites” column lists the original amino acid, amino acid change position, and mutated amino acid for all recurrent mutations identified in the gene. The “Previously seen in gyn. carcinomas” column indicates whether the mutated positions have ever been reported in gynecological (gyn.) carcinomas before. Data from COSMIC database (24).