Disease intelligence · mutation landscape
Endometrial cancer mutation landscape
How often each gene is altered in endometrial cancer, in each sequenced cohort, over the patients on whom it could have been called. Copy number is its own row. Nothing is pooled.
Answer block
In Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) (517 sequenced patients, exome or genome), the most frequently altered of the 47 genes shown are PTEN 65.18%, PIK3CA 50.1%, ARID1A 43.91%, TP53 37.14%, PIK3R1 30.56%. Each figure divides by the patients on whom that gene could be called.
96 of 517 patients are hypermutated (more than 740 non-silent mutations, ten times the cohort median of 74); every gene's frequency without them is beside the headline.
2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage.
Evidence boundary: frequency here is a count in a named cohort. Whether an alteration is a driver, is actionable, or has a drug is the briefing's question and is not inferred from these numbers.
What is altered, by cohort
One row per alteration, not per gene: a gene that is amplified and rarely mutated (ERBB2, MYCN, EGFR) gets a row for each. Every cell divides by its own denominator — the patients in that cohort on whom that gene could be called. Copy-number rows are shown only where at least one cohort reaches 2%.
| Alteration | ucec_tcga_pan_can_atlas_2018 517 pts · exome or genome | ucec_ancestry_cds_msk_2023 1882 pts · targeted panel |
|---|---|---|
| PTEN SNV / small indel | 65.18%337/517 | 49.95%940/1882 |
| PTEN deep deletion | 3.63%19/523 | 0.28%5/1812 |
| PIK3CA SNV / small indel | 50.1%259/517 | 43.78%824/1882 |
| PIK3CA amplification | 6.69%35/523 | 2.37%43/1812 |
| TP53 SNV / small indel | 37.14%192/517 | 45.16%850/1882 |
| POLE SNV / small indel | 15.67%81/517 | 4.84%91/1882 |
| MLH1 SNV / small indel | 6.38%33/517 | 1.75%33/1882 |
| MSH2 SNV / small indel | 7.93%41/517 | 3.72%70/1882 |
| MSH6 SNV / small indel | 11.22%58/517 | 4.62%87/1882 |
| ARID1A SNV / small indel | 43.91%227/517 | 42.08%792/1882 |
| CTNNB1 SNV / small indel | 25.53%132/517 | 15.73%296/1882 |
| ESR1 SNV / small indel | 5.42%28/517 | 3.08%58/1882 |
| ESR1 amplification | 2.68%14/523 | 0.28%5/1812 |
| PGR SNV / small indel | 5.8%30/517 | 0.16%3/1824 |
| ERBB2 SNV / small indel | 7.16%37/517 | 2.76%52/1882 |
| ERBB2 amplification | 5.16%27/523 | 4.64%84/1812 |
| PIK3R1 SNV / small indel | 30.56%158/517 | 25.72%484/1882 |
| KMT2D SNV / small indel | 27.66%143/517 | 12.27%231/1882 |
| CTCF SNV / small indel | 24.56%127/517 | 16.21%305/1882 |
| ZFHX3 SNV / small indel | 23.79%123/517 | 12.99%237/1824 |
| ZFHX3 deep deletion | 2.49%13/523 | 0.99%18/1812 |
| KMT2B SNV / small indel | 21.86%113/517 | 12.52%208/1661 |
| KMT2B amplification | 3.25%17/523 | 3.86%70/1812 |
| CHD4 SNV / small indel | 21.86%113/517 | · |
| CHD4 amplification | 2.1%11/523 | 0% |
| TAF1 SNV / small indel | 20.12%104/517 | · |
| FAT1 SNV / small indel | 19.92%103/517 | 4.84%91/1882 |
| ARHGAP35 SNV / small indel | 19.73%102/517 | 1.26%6/476 |
| KMT2C SNV / small indel | 19.54%101/517 | 5.05%95/1882 |
| ATM SNV / small indel | 19.15%99/517 | 7.39%139/1882 |
| KRAS SNV / small indel | 18.96%98/517 | 18.97%357/1882 |
| HUWE1 SNV / small indel | 18.76%97/517 | · |
| MDN1 SNV / small indel | 18.38%95/517 | · |
| FBXW7 SNV / small indel | 18.38%95/517 | 14.67%276/1882 |
| NSD1 SNV / small indel | 17.99%93/517 | 5.47%103/1882 |
| HERC2 SNV / small indel | 17.99%93/517 | · |
| MED12 SNV / small indel | 17.79%92/517 | 4.73%89/1882 |
| FAT2 SNV / small indel | 17.79%92/517 | · |
| CACNA1E SNV / small indel | 17.41%90/517 | · |
| LRP1 SNV / small indel | 17.02%88/517 | · |
| LAMA2 SNV / small indel | 17.02%88/517 | · |
| UBR4 SNV / small indel | 16.83%87/517 | · |
| PRKDC SNV / small indel | 16.83%87/517 | · |
| PRKDC amplification | 2.29%12/523 | 0% |
| PPP2R1A SNV / small indel | 16.83%87/517 | 12.01%226/1882 |
| PCDH15 SNV / small indel | 16.83%87/517 | · |
| NBEA SNV / small indel | 16.83%87/517 | · |
| BCOR SNV / small indel | 16.83%87/517 | 9.78%184/1882 |
| DYNC2H1 SNV / small indel | 16.63%86/517 | · |
| MKI67 SNV / small indel | 16.44%85/517 | · |
| DCHS1 SNV / small indel | 16.44%85/517 | · |
| CHD3 SNV / small indel | 16.44%85/517 | · |
| FCGBP SNV / small indel | 16.25%84/517 | · |
| FCGBP amplification | 2.87%15/523 | 0% |
| DYNC1H1 SNV / small indel | 16.25%84/517 | · |
| CEP290 SNV / small indel | 16.25%84/517 | · |
observed — shade scales with frequency, full at 30% assayed, none found not on this cohort's panel cohort not readable
Key findings
PTEN is mutated in 337 of 517 patients in Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas).
PIK3CA is mutated in 259 of 517 patients in Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas).
ARID1A is mutated in 227 of 517 patients in Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas).
Gene table — reference cohort
Headline values are from the reference cohort, ucec_tcga_pan_can_atlas_2018; the matrix above keeps every cohort separate. "Curated" marks a gene the disease briefing lists as a target; the rest are here because they are among the most frequently mutated genes in the reference cohort. Recurrent changes are the reference cohort's commonest protein changes.
| Gene | Why listed | Largest alteration | Altered / tested | Frequency | Without hypermutated | Cohorts observed | Range across cohorts | Recurrent changes |
|---|---|---|---|---|---|---|---|---|
| PTEN | curated target | SNV / small indel | 337 / 517 | 65.18% | 59.14% | 2 / 2 | 49.95–65.18% | R130G (n=41), R130Q (n=34), R233* (n=25), T319* (n=14), R130* (n=12) |
| PIK3CA | curated target | SNV / small indel | 259 / 517 | 50.1% | 45.13% | 2 / 2 | 43.78–50.1% | R88Q (n=36), H1047R (n=29), E542K (n=17), E545K (n=15), G118D (n=10) |
| TP53 | curated target | SNV / small indel | 192 / 517 | 37.14% | 38.72% | 2 / 2 | 37.14–45.16% | R273C (n=11), R273H (n=10), R248Q (n=8), R248W (n=7), R175H (n=7) |
| POLE | curated target | SNV / small indel | 81 / 517 | 15.67% | 3.09% | 2 / 2 | 4.84–15.67% | P286R (n=20), V411L (n=13), S297F (n=3), L424I (n=3), P916L (n=3) |
| MLH1 | curated target | SNV / small indel | 33 / 517 | 6.38% | 1.19% | 2 / 2 | 1.75–6.38% | R385C (n=2), A623T (n=1), G189D (n=1), G98V (n=1), R265C (n=1) |
| MSH2 | curated target | SNV / small indel | 41 / 517 | 7.93% | 0.48% | 2 / 2 | 3.72–7.93% | X426_splice (n=2), E580* (n=2), D352Y (n=1), R219I (n=1), R524C (n=1) |
| MSH6 | curated target | SNV / small indel | 58 / 517 | 11.22% | 2.14% | 2 / 2 | 4.62–11.22% | E946* (n=4), E1322* (n=3), R1076H (n=3), R959H (n=3), E1234* (n=3) |
| ARID1A | curated target | SNV / small indel | 227 / 517 | 43.91% | 36.34% | 2 / 2 | 42.08–43.91% | R1989* (n=23), D1850Tfs*33 (n=12), F2141Sfs*59 (n=7), K1072Nfs*21 (n=7), R1721* (n=6) |
| CTNNB1 | curated target | SNV / small indel | 132 / 517 | 25.53% | 22.57% | 2 / 2 | 15.73–25.53% | S37F (n=11), S37C (n=10), S33F (n=9), S33C (n=9), T41I (n=7) |
| ESR1 | curated target | SNV / small indel | 28 / 517 | 5.42% | 2.38% | 2 / 2 | 3.08–5.42% | D538G (n=3), R555H (n=2), D218N (n=2), A551V (n=1), C188R (n=1) |
| PGR | curated target | SNV / small indel | 30 / 517 | 5.8% | 2.85% | 2 / 2 | 0.16–5.8% | F591del (n=3), R740* (n=2), R788W (n=2), R740Q (n=2), A701T (n=1) |
| ERBB2 | curated target | SNV / small indel | 37 / 517 | 7.16% | 2.85% | 2 / 2 | 2.76–7.16% | R678Q (n=5), V842I (n=4), L755S (n=3), E1195K (n=1), X76_splice (n=1) |
| PIK3R1 | by frequency | SNV / small indel | 158 / 517 | 30.56% | 27.08% | 2 / 2 | 25.72–30.56% | R348* (n=15), X582_splice (n=11), N564D (n=6), R461* (n=6), R642* (n=5) |
| KMT2D | by frequency | SNV / small indel | 143 / 517 | 27.66% | 16.63% | 2 / 2 | 12.27–27.66% | G1235Vfs*95 (n=9), P2354Lfs*30 (n=7), R3707* (n=4), P647Hfs*283 (n=3), P1460Hfs*46 (n=2) |
| CTCF | by frequency | SNV / small indel | 127 / 517 | 24.56% | 18.29% | 2 / 2 | 16.21–24.56% | T204Nfs*26 (n=14), T204Qfs*18 (n=8), R448* (n=7), R377C (n=6), P378L (n=4) |
| ZFHX3 | by frequency | SNV / small indel | 123 / 517 | 23.79% | 13.54% | 2 / 2 | 12.99–23.79% | R1893Gfs*35 (n=8), E763Sfs*61 (n=5), Q2557Efs*21 (n=4), A3407Lfs*78 (n=4), R1439Q (n=3) |
| KMT2B | by frequency | SNV / small indel | 113 / 517 | 21.86% | 13.06% | 2 / 2 | 12.52–21.86% | G1879Vfs*16 (n=5), R1911Dfs*23 (n=3), P1201Rfs*154 (n=3), R1109Efs*73 (n=2), E1620K (n=2) |
| CHD4 | by frequency | SNV / small indel | 113 / 517 | 21.86% | 12.59% | 1 / 2 | 21.86–21.86% | R1105W (n=7), R975H (n=7), R1338I (n=5), R1162W (n=5), K73Rfs*129 (n=4) |
| TAF1 | by frequency | SNV / small indel | 104 / 517 | 20.12% | 9.5% | 1 / 2 | 20.12–20.12% | R869C (n=6), R539Q (n=5), R843W (n=4), R1163H (n=3), R843Q (n=3) |
| FAT1 | by frequency | SNV / small indel | 103 / 517 | 19.92% | 7.84% | 2 / 2 | 4.84–19.92% | R2597* (n=6), D3120N (n=3), E528K (n=3), R1795* (n=3), R1627* (n=3) |
| ARHGAP35 | by frequency | SNV / small indel | 102 / 517 | 19.73% | 9.74% | 2 / 2 | 1.26–19.73% | R997* (n=10), R433* (n=5), R109* (n=3), R1145* (n=3), R529* (n=3) |
| KMT2C | by frequency | SNV / small indel | 101 / 517 | 19.54% | 9.03% | 2 / 2 | 5.05–19.54% | R190Q (n=4), R4693Q (n=4), R4806* (n=4), S836Y (n=3), R56Q (n=3) |
| ATM | by frequency | SNV / small indel | 99 / 517 | 19.15% | 8.08% | 2 / 2 | 7.39–19.15% | R2598* (n=3), R250* (n=3), R248Q (n=3), R1086C (n=2), R2993* (n=2) |
| KRAS | by frequency | SNV / small indel | 98 / 517 | 18.96% | 17.58% | 2 / 2 | 18.96–18.97% | G12D (n=32), G12V (n=19), G13D (n=11), G12A (n=8), G12C (n=6) |
| HUWE1 | by frequency | SNV / small indel | 97 / 517 | 18.76% | 6.89% | 1 / 2 | 18.76–18.76% | F1592L (n=2), Y147C (n=2), R1780H (n=2), R2545C (n=2), R3990C (n=2) |
| MDN1 | by frequency | SNV / small indel | 95 / 517 | 18.38% | 6.89% | 1 / 2 | 18.38–18.38% | K1989Rfs*65 (n=6), S3113L (n=4), E1663* (n=3), R2204* (n=3), R1273C (n=2) |
| FBXW7 | by frequency | SNV / small indel | 95 / 517 | 18.38% | 12.35% | 2 / 2 | 14.67–18.38% | R465H (n=10), R465C (n=8), R505C (n=8), R689W (n=7), R658* (n=6) |
| NSD1 | by frequency | SNV / small indel | 93 / 517 | 17.99% | 8.31% | 2 / 2 | 5.47–17.99% | M1531Cfs*43 (n=12), V1486* (n=3), R2117* (n=2), R1914C (n=2), T545M (n=2) |
| HERC2 | by frequency | SNV / small indel | 93 / 517 | 17.99% | 5.46% | 1 / 2 | 17.99–17.99% | R3906C (n=4), E3913K (n=3), A330T (n=3), R1744Q (n=3), R746H (n=2) |
| MED12 | by frequency | SNV / small indel | 92 / 517 | 17.79% | 7.6% | 2 / 2 | 4.73–17.79% | R521H (n=4), E79D (n=3), E716D (n=2), X68_splice (n=2), R1266H (n=2) |
| FAT2 | by frequency | SNV / small indel | 92 / 517 | 17.79% | 6.65% | 1 / 2 | 17.79–17.79% | E1795* (n=3), R543H (n=3), E928* (n=2), G3018D (n=2), R1445Q (n=2) |
| CACNA1E | by frequency | SNV / small indel | 90 / 517 | 17.41% | 6.18% | 1 / 2 | 17.41–17.41% | D87N (n=3), L1006* (n=3), A1307T (n=2), S1937L (n=2), R938Q (n=2) |
| LRP1 | by frequency | SNV / small indel | 88 / 517 | 17.02% | 8.08% | 1 / 2 | 17.02–17.02% | R1026C (n=3), G3360R (n=2), R2707H (n=2), E4146K (n=2), R3702H (n=2) |
| LAMA2 | by frequency | SNV / small indel | 88 / 517 | 17.02% | 6.65% | 1 / 2 | 17.02–17.02% | R553* (n=3), S971Y (n=3), R84Q (n=2), F1085L (n=2), R1844H (n=2) |
| UBR4 | by frequency | SNV / small indel | 87 / 517 | 16.83% | 5.94% | 1 / 2 | 16.83–16.83% | M2803Cfs*16 (n=6), R5060W (n=3), R3425C (n=2), R3748* (n=2), R325H (n=2) |
| PRKDC | by frequency | SNV / small indel | 87 / 517 | 16.83% | 6.65% | 1 / 2 | 16.83–16.83% | R2521Q (n=6), E3638* (n=3), R1136H (n=3), R2597Q (n=3), N3604Kfs*3 (n=3) |
| PPP2R1A | by frequency | SNV / small indel | 87 / 517 | 16.83% | 14.73% | 2 / 2 | 12.01–16.83% | P179R (n=26), R183W (n=8), S256F (n=7), S256Y (n=3), E101K (n=2) |
| PCDH15 | by frequency | SNV / small indel | 87 / 517 | 16.83% | 6.41% | 1 / 2 | 16.83–16.83% | X436_splice (n=2), R683H (n=2), L1025I (n=2), E456* (n=2), S1509Y (n=2) |
| NBEA | by frequency | SNV / small indel | 87 / 517 | 16.83% | 5.94% | 1 / 2 | 16.83–16.83% | N1121Mfs*9 (n=6), E1710K (n=5), R2080* (n=3), R2756W (n=3), R1308* (n=3) |
| BCOR | by frequency | SNV / small indel | 87 / 517 | 16.83% | 9.03% | 2 / 2 | 9.78–16.83% | N1459S (n=27), L7Cfs*9 (n=2), S1667L (n=2), R1514* (n=2), R993W (n=2) |
| DYNC2H1 | by frequency | SNV / small indel | 86 / 517 | 16.63% | 4.28% | 1 / 2 | 16.63–16.63% | E883D (n=5), R3053Q (n=3), V2574I (n=2), R2015Q (n=2), E436* (n=2) |
| MKI67 | by frequency | SNV / small indel | 85 / 517 | 16.44% | 3.8% | 1 / 2 | 16.44–16.44% | E1374K (n=4), I1857Yfs*30 (n=4), N233Mfs*12 (n=3), P2590Hfs*4 (n=2), F1524L (n=2) |
| DCHS1 | by frequency | SNV / small indel | 85 / 517 | 16.44% | 5.46% | 1 / 2 | 16.44–16.44% | D2269N (n=5), R235Gfs*9 (n=4), D1677N (n=3), R2962W (n=2), R2127H (n=2) |
| CHD3 | by frequency | SNV / small indel | 85 / 517 | 16.44% | 7.84% | 1 / 2 | 16.44–16.44% | R540Vfs*16 (n=16), S861L (n=4), T376M (n=2), R1511C (n=2), R1381H (n=2) |
| FCGBP | by frequency | SNV / small indel | 84 / 517 | 16.25% | 6.18% | 1 / 2 | 16.25–16.25% | R487H (n=3), E1539K (n=3), L2306I (n=2), A4187T (n=2), A3420T (n=2) |
| DYNC1H1 | by frequency | SNV / small indel | 84 / 517 | 16.25% | 5.94% | 1 / 2 | 16.25–16.25% | R2398C (n=3), E97* (n=3), R1226W (n=3), L774I (n=2), F161Lfs*52 (n=2) |
| CEP290 | by frequency | SNV / small indel | 84 / 517 | 16.25% | 4.75% | 1 / 2 | 16.25–16.25% | R151Q (n=4), N2290Ifs*11 (n=3), N212Tfs*14 (n=3), E440* (n=3), R1926Q (n=3) |
Cohorts
Listed in the disease profile, not searched: a name search returns the same patients under several accessions. Patients are unique patient ids in the study's sequenced sample list. Hypermutated: more than ten times the cohort's median non-silent mutations per sample, and at least 100.
| Cohort | Accession | Patients | Samples sequenced / in study | Assay | Panels (samples) | Build | Profiles read | Hypermutated patients | Median mutations / sample |
|---|---|---|---|---|---|---|---|---|---|
| Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) reference | ucec_tcga_pan_can_atlas_2018 | 517 observed | 517 / 529 | exome or genome | WES (517) | hg19 | SNV, small indel, amplification, deep deletion, structural variant (profile present, not read) | 96 | 74 |
| Endometrial Cancer (MSK, Cancer Discovery 2023) | ucec_ancestry_cds_msk_2023 | 1882 observed | 1882 / 1882 | targeted panel | IMPACT468 (1185), IMPACT505 (476), IMPACT410 (163), IMPACT341 (58) | hg19 | SNV, small indel, amplification, deep deletion | 0 | 5.0 |
Copy-number events
Discrete calls from each study's copy-number profile: 2 is high-level amplification, −2 deep deletion. Gains and shallow losses are not counted. Denominators are the cohort's copy-number sample list, which differs from its sequenced list. Rows at 2% or more.
| Gene | Event | Observed patients | Tested patients | Frequency | Cohort | Profile |
|---|---|---|---|---|---|---|
| PIK3CA | amplification | 35 | 523 | 6.69% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| ERBB2 | amplification | 27 | 523 | 5.16% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| ERBB2 | amplification | 84 | 1812 | 4.64% | ucec_ancestry_cds_msk_2023 | ucec_ancestry_cds_msk_2023_cna |
| KMT2B | amplification | 70 | 1812 | 3.86% | ucec_ancestry_cds_msk_2023 | ucec_ancestry_cds_msk_2023_cna |
| PTEN | deep deletion | 19 | 523 | 3.63% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| KMT2B | amplification | 17 | 523 | 3.25% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| FCGBP | amplification | 15 | 523 | 2.87% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| ESR1 | amplification | 14 | 523 | 2.68% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| ZFHX3 | deep deletion | 13 | 523 | 2.49% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| PIK3CA | amplification | 43 | 1812 | 2.37% | ucec_ancestry_cds_msk_2023 | ucec_ancestry_cds_msk_2023_cna |
| PRKDC | amplification | 12 | 523 | 2.29% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
| CHD4 | amplification | 11 | 523 | 2.1% | ucec_tcga_pan_can_atlas_2018 | ucec_tcga_pan_can_atlas_2018_gistic |
Cohort-aware frequencies
Each row is calculated from unique patients in that study's sequenced sample list. The range is descriptive; no pooled estimate is shown because cross-study overlap and assay comparability have not been checked.
| Gene | Range | Per cohort (altered / tested) |
|---|---|---|
| PTEN | 49.95–65.18% | ucec_tcga_pan_can_atlas_2018: 337/517 (65.18%) · ucec_ancestry_cds_msk_2023: 940/1882 (49.95%) |
| PIK3CA | 43.78–50.1% | ucec_tcga_pan_can_atlas_2018: 259/517 (50.1%) · ucec_ancestry_cds_msk_2023: 824/1882 (43.78%) |
| TP53 | 37.14–45.16% | ucec_tcga_pan_can_atlas_2018: 192/517 (37.14%) · ucec_ancestry_cds_msk_2023: 850/1882 (45.16%) |
| POLE | 4.84–15.67% | ucec_tcga_pan_can_atlas_2018: 81/517 (15.67%) · ucec_ancestry_cds_msk_2023: 91/1882 (4.84%) |
| MLH1 | 1.75–6.38% | ucec_tcga_pan_can_atlas_2018: 33/517 (6.38%) · ucec_ancestry_cds_msk_2023: 33/1882 (1.75%) |
| MSH2 | 3.72–7.93% | ucec_tcga_pan_can_atlas_2018: 41/517 (7.93%) · ucec_ancestry_cds_msk_2023: 70/1882 (3.72%) |
| MSH6 | 4.62–11.22% | ucec_tcga_pan_can_atlas_2018: 58/517 (11.22%) · ucec_ancestry_cds_msk_2023: 87/1882 (4.62%) |
| ARID1A | 42.08–43.91% | ucec_tcga_pan_can_atlas_2018: 227/517 (43.91%) · ucec_ancestry_cds_msk_2023: 792/1882 (42.08%) |
| CTNNB1 | 15.73–25.53% | ucec_tcga_pan_can_atlas_2018: 132/517 (25.53%) · ucec_ancestry_cds_msk_2023: 296/1882 (15.73%) |
| ESR1 | 3.08–5.42% | ucec_tcga_pan_can_atlas_2018: 28/517 (5.42%) · ucec_ancestry_cds_msk_2023: 58/1882 (3.08%) |
| PGR | 0.16–5.8% | ucec_tcga_pan_can_atlas_2018: 30/517 (5.8%) · ucec_ancestry_cds_msk_2023: 3/1824 (0.16%) |
| ERBB2 | 2.76–7.16% | ucec_tcga_pan_can_atlas_2018: 37/517 (7.16%) · ucec_ancestry_cds_msk_2023: 52/1882 (2.76%) |
| PIK3R1 | 25.72–30.56% | ucec_tcga_pan_can_atlas_2018: 158/517 (30.56%) · ucec_ancestry_cds_msk_2023: 484/1882 (25.72%) |
| KMT2D | 12.27–27.66% | ucec_tcga_pan_can_atlas_2018: 143/517 (27.66%) · ucec_ancestry_cds_msk_2023: 231/1882 (12.27%) |
| CTCF | 16.21–24.56% | ucec_tcga_pan_can_atlas_2018: 127/517 (24.56%) · ucec_ancestry_cds_msk_2023: 305/1882 (16.21%) |
| ZFHX3 | 12.99–23.79% | ucec_tcga_pan_can_atlas_2018: 123/517 (23.79%) · ucec_ancestry_cds_msk_2023: 237/1824 (12.99%) |
| KMT2B | 12.52–21.86% | ucec_tcga_pan_can_atlas_2018: 113/517 (21.86%) · ucec_ancestry_cds_msk_2023: 208/1661 (12.52%) |
| CHD4 | 21.86–21.86% | ucec_tcga_pan_can_atlas_2018: 113/517 (21.86%) · ucec_ancestry_cds_msk_2023: not assayed |
| TAF1 | 20.12–20.12% | ucec_tcga_pan_can_atlas_2018: 104/517 (20.12%) · ucec_ancestry_cds_msk_2023: not assayed |
| FAT1 | 4.84–19.92% | ucec_tcga_pan_can_atlas_2018: 103/517 (19.92%) · ucec_ancestry_cds_msk_2023: 91/1882 (4.84%) |
| ARHGAP35 | 1.26–19.73% | ucec_tcga_pan_can_atlas_2018: 102/517 (19.73%) · ucec_ancestry_cds_msk_2023: 6/476 (1.26%) |
| KMT2C | 5.05–19.54% | ucec_tcga_pan_can_atlas_2018: 101/517 (19.54%) · ucec_ancestry_cds_msk_2023: 95/1882 (5.05%) |
| ATM | 7.39–19.15% | ucec_tcga_pan_can_atlas_2018: 99/517 (19.15%) · ucec_ancestry_cds_msk_2023: 139/1882 (7.39%) |
| KRAS | 18.96–18.97% | ucec_tcga_pan_can_atlas_2018: 98/517 (18.96%) · ucec_ancestry_cds_msk_2023: 357/1882 (18.97%) |
| HUWE1 | 18.76–18.76% | ucec_tcga_pan_can_atlas_2018: 97/517 (18.76%) · ucec_ancestry_cds_msk_2023: not assayed |
| MDN1 | 18.38–18.38% | ucec_tcga_pan_can_atlas_2018: 95/517 (18.38%) · ucec_ancestry_cds_msk_2023: not assayed |
| FBXW7 | 14.67–18.38% | ucec_tcga_pan_can_atlas_2018: 95/517 (18.38%) · ucec_ancestry_cds_msk_2023: 276/1882 (14.67%) |
| NSD1 | 5.47–17.99% | ucec_tcga_pan_can_atlas_2018: 93/517 (17.99%) · ucec_ancestry_cds_msk_2023: 103/1882 (5.47%) |
| HERC2 | 17.99–17.99% | ucec_tcga_pan_can_atlas_2018: 93/517 (17.99%) · ucec_ancestry_cds_msk_2023: not assayed |
| MED12 | 4.73–17.79% | ucec_tcga_pan_can_atlas_2018: 92/517 (17.79%) · ucec_ancestry_cds_msk_2023: 89/1882 (4.73%) |
| FAT2 | 17.79–17.79% | ucec_tcga_pan_can_atlas_2018: 92/517 (17.79%) · ucec_ancestry_cds_msk_2023: not assayed |
| CACNA1E | 17.41–17.41% | ucec_tcga_pan_can_atlas_2018: 90/517 (17.41%) · ucec_ancestry_cds_msk_2023: not assayed |
| LRP1 | 17.02–17.02% | ucec_tcga_pan_can_atlas_2018: 88/517 (17.02%) · ucec_ancestry_cds_msk_2023: not assayed |
| LAMA2 | 17.02–17.02% | ucec_tcga_pan_can_atlas_2018: 88/517 (17.02%) · ucec_ancestry_cds_msk_2023: not assayed |
| UBR4 | 16.83–16.83% | ucec_tcga_pan_can_atlas_2018: 87/517 (16.83%) · ucec_ancestry_cds_msk_2023: not assayed |
| PRKDC | 16.83–16.83% | ucec_tcga_pan_can_atlas_2018: 87/517 (16.83%) · ucec_ancestry_cds_msk_2023: not assayed |
| PPP2R1A | 12.01–16.83% | ucec_tcga_pan_can_atlas_2018: 87/517 (16.83%) · ucec_ancestry_cds_msk_2023: 226/1882 (12.01%) |
| PCDH15 | 16.83–16.83% | ucec_tcga_pan_can_atlas_2018: 87/517 (16.83%) · ucec_ancestry_cds_msk_2023: not assayed |
| NBEA | 16.83–16.83% | ucec_tcga_pan_can_atlas_2018: 87/517 (16.83%) · ucec_ancestry_cds_msk_2023: not assayed |
| BCOR | 9.78–16.83% | ucec_tcga_pan_can_atlas_2018: 87/517 (16.83%) · ucec_ancestry_cds_msk_2023: 184/1882 (9.78%) |
| DYNC2H1 | 16.63–16.63% | ucec_tcga_pan_can_atlas_2018: 86/517 (16.63%) · ucec_ancestry_cds_msk_2023: not assayed |
| MKI67 | 16.44–16.44% | ucec_tcga_pan_can_atlas_2018: 85/517 (16.44%) · ucec_ancestry_cds_msk_2023: not assayed |
| DCHS1 | 16.44–16.44% | ucec_tcga_pan_can_atlas_2018: 85/517 (16.44%) · ucec_ancestry_cds_msk_2023: not assayed |
| CHD3 | 16.44–16.44% | ucec_tcga_pan_can_atlas_2018: 85/517 (16.44%) · ucec_ancestry_cds_msk_2023: not assayed |
| FCGBP | 16.25–16.25% | ucec_tcga_pan_can_atlas_2018: 84/517 (16.25%) · ucec_ancestry_cds_msk_2023: not assayed |
| DYNC1H1 | 16.25–16.25% | ucec_tcga_pan_can_atlas_2018: 84/517 (16.25%) · ucec_ancestry_cds_msk_2023: not assayed |
| CEP290 | 16.25–16.25% | ucec_tcga_pan_can_atlas_2018: 84/517 (16.25%) · ucec_ancestry_cds_msk_2023: not assayed |
What this page does not do
Structural variants
Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases.
Context
Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four.
Interpretation
Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts.
Limitations
- A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.
- Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.
- For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.
- Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.
- Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.
- Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.
- The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide.
How a machine should read this page
- Denominators: every frequency divides by the patients in one named cohort on whom the gene could be called; there is no disease-wide figure.
- Missing values:
not_assayed(the panel did not carry the gene),not_observed(assayed, none found) andnot_evaluable(the cohort could not be read) are three different facts and are never converted to zero. - Counting: patients, not samples; several samples from one patient count once. Non-silent calls only.
- Copy number: a separate assay with a separate roster; discrete calls at ±2 only.
- Hypermutation: flagged per cohort; the headline keeps all patients and the frequency without them is reported beside it.
- Provenance: every value carries the study id, the retrieval date and the processing version; the source is the cBioPortal public API.
Machine endpoints: full landscape · genes · cohorts · the disease's own facts: /disease/endometrial-cancer.json.
Built by the BioTransfer briefings pipeline from the cBioPortal public API. The neuroblastoma page was assembled by hand and set the rules this page follows; how these are built.