Table 1.
Somatic mutations identified in the discovery and prevalence screens of CHD4, FBXW7, SPOP, MAP3K4, ABCC9, and CYP4X1.
| Gene Name (RefSeq ID; UCSC Transcript Accession ID^) |
Tumor | Histology | Nucleotide Change | Amino Acid Change | Mutation type |
Mutation Assessor Predicted Effect on Function |
|---|---|---|---|---|---|---|
|
CHD4 (NM_001273; uc001qpo.2) |
T3 (OM1323) |
Serous | c.2450G>A | p.Arg817Gln | Missense | Medium |
| T3 (OM1323) |
Serous | c.4709G>A | p.Ser1570Asn | Missense | Low | |
| T10 (OM2009) |
Serous | c.4013G>A | p.Arg1338Lys | Missense | Medium | |
| T29 | Serous | c.3314G>A | p.Arg1105Gln | Missense | High | |
| T50 | Serous | c.3452A>C | p.His1151Arg | Missense | High | |
| T78 | Serous | c.2734T>C | p.Leu912Val | Missense | High | |
| T165 | Serous | c.4001G>T | p.Gly1334Val | Missense | Medium | |
| T33 | Serous | c.3485G>A | p.Arg1162Gln | Missense | High | |
| T154 | Serous | c.1672G>T | p.Val558Phe | Missense | Medium | |
| T56 | Serous | c.3460_3462delATT | p.del1152Asn | In-frame deletion | - | |
| T59 | Clear cell | c.2629C>T | p.Arg877Trp | Missense | High | |
| T97 | Endometrioid | c.1715G>A | p.Arg572Gln | Missense | Medium | |
| T115 | Endometrioid | c.4946C>T | p.Ala1649Val | Missense | Low | |
| T120 | Endometrioid | c.2620_2622delGAA | p.del874Glu | In-frame deletion | - | |
| T126 | Endometrioid | c.5704G>A | p.Glu1902Lys | Missense | Low | |
| T133 | Endometrioid | c.3484C>T | p.Arg1162Trp | Missense | High | |
| T173 | Mixed | c.3644T>C | p.Leu1215Pro | Missense | High | |
| T179 | Mixed | c.218delA | p.Lys72Argfs*128 | Frameshift | - | |
|
FBXW7 (NM_018315; uc003imr.2) |
T3 (OM1323) |
Serous | c.193G>T | p.Glu65* | Nonsense | - |
| T113 | Clear cell | c.207_208insA | p.Asn69Lysfs*26 | Frameshift | - | |
| (NM_033632; uc003ims.2) |
T3 (OM1323) | Serous | c.288A>C | p.Glu96Asp | Missense | Neutral |
| T43 | Serous | c.1590_1608delTGAAACCTGTCTAC ACACG |
p.Glu531Cysfs*19 | Frameshift | - | |
| T50 | Serous | c.1436G>A | p.Arg479Gln | Missense | Medium ¶ | |
| T53 | Serous | c.1393C>T | p.Arg465Cys | Missense | Medium ¶ | |
| T74 | Serous | c.1394G>A | p.Arg465His | Missense | High ¶ | |
| T78 | Serous | c.1394G>A | p.Arg465His | Missense | High ¶ | |
| T79 | Serous | c.504G>T | p.Met168Ile | Missense | Low | |
| T79 | Serous | c.41G>A | p.Arg14Gln | Missense | Neutral | |
| T79 | Serous | c.1436G>A | p.Arg479Gln | Missense | Medium ¶ | |
| T114 | Serous | c.1513C>T | p.Arg505Cys | Missense | Medium ¶ | |
| T162 | Serous | c.1436G>A | p.Arg479Gln | Missense | Medium ¶ | |
| T166 | Serous | c.1634A>T | p.Tyr545Cys | Missense | Medium | |
| T167 | Serous | c.2065C>T | p.Arg689Trp | Missense | Medium | |
| T29 | Serous | c.1387A>G | p.Thr463Ala | Missense | Medium | |
| T80 | Serous | c.1385C>T | p.Ser462Phe | Missense | Medium | |
| T80 | Serous | c.1322G>C | p.Arg441Pro | Missense | Medium | |
| T47 | Serous | c.1436G>A | p.Arg479Gln | Missense | Medium ¶ | |
| T69 | Serous | c.2065C>T | p.Arg689Trp | Missense | Medium | |
| T32 | Clear cell | c.1199_1201delACA | p.del401Asn | In-frame deletion |
- | |
| T77 | Clear cell | c.1513C>T | p.Arg505Cys | Missense | Medium ¶ | |
| T84 | Endometrioid | c.1268G>T | p.Gly423Val | Missense | Medium | |
| T85 | Endometrioid | c.1436G>A | p.Arg479Gln | Missense | Medium ¶ | |
| T88 | Endometrioid | c.994G>T | p.Glu332* | Nonsense | - | |
| T88 | Endometrioid | c.1452G>T | p.Arg484Ser | Missense | High | |
| T88 | Endometrioid | c.1629A>C | p.Arg543Ser | Missense | Low | |
| T94 | Endometrioid | c.1393C>T | p.Arg465Cys | Missense | Medium ¶ | |
| T97 | Endometrioid | c.1436G>A | p.Arg479Gln | Missense | Medium ¶ | |
| T115 | Endometrioid | c.1508C>T | p.Ala503Val | Missense | Medium | |
| T119 | Endometrioid | c.1513C>T | p.Arg505Cys | Missense | Medium ¶ | |
| T178 | Mixed | c.1508C>T | p.Ala503Val | Missense | Medium | |
| T179 | Mixed | c.791A>G | p.Gln264Arg | Missense | Medium | |
| T179 | Mixed | c.1972C>T | p.Arg658* | Nonsense | - | |
|
SPOP (NM_001007229; uc002ipf.2) |
T25 | Serous | c.240C>G | p.Ser80Arg | Missense | Medium |
| T56 | Serous | c.240C>G | p.Ser80Arg | Missense | Medium | |
| T80 | Serous | c.280C>G | p.Pro94Ala | Missense | Low | |
| T154 | Serous | c.362G>A | p.Arg121Gln | Missense | Low | |
| T110 | Clear cell | c.351G>A | p.Met117Ile | Missense | Low | |
| T153 | Clear cell | c.139G>A | p.Glu47Lys | Missense | Medium | |
|
MAP3K4 (NM_006724; uc003qtn.2) |
T79 | Serous | c.1837G>A | p.Glu613Lys | Missense | Low |
| T79 | Serous | c.3928G>T | p.Glu1310* | Nonsense | - | |
| T80 | Serous | c.4165G>A | p.Glu1389Lys | Missense | High | |
| T65 | Serous | c.4077delC | p.Cys1359Alafs*8 | Frameshift | - | |
|
ABCC9 (NM_020297; uc001rfh.2) |
T3 (OM1323) |
Serous | c.2666G>A | p.Ser889Asn | Missense | Low |
| T3 (OM1323) | Serous | c.2868G>T | p.Glu956Asp | Missense | Low | |
| T70 | Serous | c.2185G>T | p.Val729Phe | Missense | Medium | |
| T75 | Serous | c.3381G>A | p.Met1127Ile | Missense | Low | |
|
CYP4X1 (NM_178033; uc001cqr.1) |
T75 | Serous | c.1036G>C | p.Val346Leu | Missense | Neutral |
| T56 | Serous | c.211G>A | p.Glu71Lys | Missense | Neutral |
¶
Known loss-of-function mutations in FBXW7
-
()Not evaluated by Mutation Assessor
^
UCSC transcript IDs are based on the hg18 assembly of the human genome sequence