Disease intelligence · mutation landscape
Ovarian cancer mutation landscape
How often each gene is altered in ovarian 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 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) (523 sequenced patients, exome or genome), the most frequently altered of the 48 genes shown are TP53 70.94%, TG 29.02% (amplification), PIK3CA 20.28% (amplification), CCNE1 19.58% (amplification), SI 15.73% (amplification). Each figure divides by the patients on whom that gene could be called.
3 of 523 patients are hypermutated (more than 560 non-silent mutations, ten times the cohort median of 56); every gene's frequency without them is beside the headline.
Of the briefing's 12 curated targets, 2 are altered in under 2% of this cohort (MSLN, ARID1A): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.
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 | ov_tcga_pan_can_atlas_2018 523 pts · exome or genome | ovary_cptac_gdc 95 pts · exome or genome |
|---|---|---|
| TP53 SNV / small indel | 70.94%371/523 | 77.89%74/95 |
| BRCA1 SNV / small indel | 3.44%18/523 | 6.32%6/95 |
| BRCA2 SNV / small indel | 2.87%15/523 | 3.16%3/95 |
| CCNE1 SNV / small indel | 0.38%2/523 | 0% |
| CCNE1 amplification | 19.58%112/572 | · |
| FOLR1 SNV / small indel | 0.57%3/523 | 0% |
| FOLR1 amplification | 4.72%27/572 | · |
| MUC16 SNV / small indel | 7.84%41/523 | 12.63%12/95 |
| MUC16 amplification | 4.2%24/572 | · |
| MSLN SNV / small indel | 0% | 0% |
| KRAS SNV / small indel | 1.15%6/523 | 2.11%2/95 |
| KRAS amplification | 9.44%54/572 | · |
| ARID1A SNV / small indel | 0.76%4/523 | 4.21%4/95 |
| PIK3CA SNV / small indel | 1.53%8/523 | 3.16%3/95 |
| PIK3CA amplification | 20.28%116/572 | · |
| PTEN SNV / small indel | 1.34%7/523 | 3.16%3/95 |
| PTEN deep deletion | 4.55%26/572 | · |
| NF1 SNV / small indel | 5.74%30/523 | 3.16%3/95 |
| NF1 deep deletion | 6.29%36/572 | · |
| KMT2C SNV / small indel | 4.59%24/523 | 5.26%5/95 |
| KMT2C amplification | 7.34%42/572 | · |
| SI SNV / small indel | 4.21%22/523 | 3.16%3/95 |
| SI amplification | 15.73%90/572 | · |
| MDN1 SNV / small indel | 4.02%21/523 | 3.16%3/95 |
| FCGBP SNV / small indel | 4.02%21/523 | 5.26%5/95 |
| FCGBP amplification | 8.74%50/572 | · |
| COL6A3 SNV / small indel | 4.02%21/523 | 2.11%2/95 |
| TG SNV / small indel | 3.82%20/523 | 8.42%8/95 |
| TG amplification | 29.02%166/572 | · |
| MYH4 SNV / small indel | 3.82%20/523 | 4.21%4/95 |
| MYH1 SNV / small indel | 3.82%20/523 | 3.16%3/95 |
| LRP1 SNV / small indel | 3.82%20/523 | 2.11%2/95 |
| TOP2A SNV / small indel | 3.63%19/523 | 1.05%1/95 |
| SPEN SNV / small indel | 3.63%19/523 | 3.16%3/95 |
| PKHD1 SNV / small indel | 3.63%19/523 | 3.16%3/95 |
| PKHD1 amplification | 2.45%14/572 | · |
| LRRK2 SNV / small indel | 3.63%19/523 | 3.16%3/95 |
| LRRK2 amplification | 2.27%13/572 | · |
| CDK12 SNV / small indel | 3.63%19/523 | 3.16%3/95 |
| VPS13B SNV / small indel | 3.44%18/523 | 3.16%3/95 |
| VPS13B amplification | 10.84%62/572 | · |
| PEG3 SNV / small indel | 3.44%18/523 | 3.16%3/95 |
| DYNC1H1 SNV / small indel | 3.44%18/523 | 1.05%1/95 |
| DYNC1H1 amplification | 2.27%13/572 | · |
| TACC2 SNV / small indel | 3.25%17/523 | 2.11%2/95 |
| TACC2 amplification | 2.27%13/572 | · |
| RELN SNV / small indel | 3.25%17/523 | 1.05%1/95 |
| RELN amplification | 3.32%19/572 | · |
| PTPRZ1 SNV / small indel | 3.25%17/523 | 2.11%2/95 |
| PTPRZ1 amplification | 4.2%24/572 | · |
| PDE4DIP SNV / small indel | 3.25%17/523 | 1.05%1/95 |
| PDE4DIP amplification | 6.64%38/572 | · |
| RB1 SNV / small indel | 3.06%16/523 | 4.21%4/95 |
| RB1 deep deletion | 8.57%49/572 | · |
| PRUNE2 SNV / small indel | 3.06%16/523 | 2.11%2/95 |
| PCDH15 SNV / small indel | 3.06%16/523 | 4.21%4/95 |
| MYCBP2 SNV / small indel | 3.06%16/523 | 3.16%3/95 |
| KMT2A SNV / small indel | 3.06%16/523 | 7.37%7/95 |
| HUWE1 SNV / small indel | 3.06%16/523 | 7.37%7/95 |
| HUWE1 amplification | 2.97%17/572 | · |
| HIVEP3 SNV / small indel | 3.06%16/523 | 2.11%2/95 |
| HIVEP3 amplification | 7.87%45/572 | · |
| DYSF SNV / small indel | 3.06%16/523 | 1.05%1/95 |
| VWF SNV / small indel | 2.87%15/523 | 4.21%4/95 |
| VWF amplification | 5.77%33/572 | · |
| SZT2 SNV / small indel | 2.87%15/523 | 1.05%1/95 |
| SZT2 amplification | 6.64%38/572 | · |
| NOTCH4 SNV / small indel | 2.87%15/523 | 2.11%2/95 |
| NOTCH4 amplification | 3.32%19/572 | · |
| CACNA1C SNV / small indel | 2.87%15/523 | 5.26%5/95 |
| CACNA1C amplification | 7.17%41/572 | · |
| VPS13C SNV / small indel | 2.68%14/523 | 2.11%2/95 |
| UBR4 SNV / small indel | 2.68%14/523 | 2.11%2/95 |
| RNF213 SNV / small indel | 2.68%14/523 | 3.16%3/95 |
| RNF213 amplification | 3.85%22/572 | · |
observed — shade scales with frequency, full at 30% assayed, none found not on this cohort's panel cohort not readable
Key findings
TP53 is mutated in 371 of 523 patients in Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas).
TG is amplified in 166 of 572 patients in Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas).
PIK3CA is amplified in 116 of 572 patients in Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas).
Gene table — reference cohort
Headline values are from the reference cohort, ov_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.
FDA biomarker marks a gene the FDA recognises as a biomarker of response to an approved drug; FDA, tumour-agnostic marks the five that apply whatever the primary site. Hover for the drug, the tumour type and the year. This is level 1 only, United States only, and frozen at November 2022 — a dash means the gene was not FDA-recognised on that date, not that it is undruggable, and not that no trial exists. The frequency beside it is how often the gene is altered in this disease, which is a different question from whether these patients are eligible for the drug. Source: Quantifying the Expanding Landscape of Clinical Actionability for Patients with Cancer. Cancer Discovery 2024;14(1):49-65. doi:10.1158/2159-8290.CD-23-0467, Table 1
| Gene | FDA status | Why listed | Largest alteration | Altered / tested | Frequency | Without hypermutated | Cohorts observed | Range across cohorts | Recurrent changes |
|---|---|---|---|---|---|---|---|---|---|
| TP53 | — | curated target | SNV / small indel | 371 / 523 | 70.94% | 71.15% | 2 / 2 | 70.94–77.89% | R175H (n=15), R248Q (n=10), X187_splice (n=10), R273H (n=9), R248W (n=9) |
| BRCA1 | FDA biomarker2014 · 4 drugs | curated target | SNV / small indel | 18 / 523 | 3.44% | 3.46% | 2 / 2 | 3.44–6.32% | I1108* (n=1), Q1538* (n=1), W1718* (n=1), N1265Kfs*4 (n=1), Y655Vfs*18 (n=1) |
| BRCA2 | FDA biomarker2014 · 1 drug | curated target | SNV / small indel | 15 / 523 | 2.87% | 2.5% | 2 / 2 | 2.87–3.16% | C711* (n=1), N1906I (n=1), Q1934K (n=1), S1882* (n=1), K1406Nfs*3 (n=1) |
| CCNE1 | — | curated target | amplification | 112 / 572 | 19.58% mutation 0.38% | 0.38% | 1 / 2 | 0.0–0.38% | I298V (n=1), L161V (n=1) |
| FOLR1 | — | curated target | amplification | 27 / 572 | 4.72% mutation 0.57% | 0.38% | 1 / 2 | 0.0–0.57% | H43N (n=1), E191K (n=1), A64T (n=1) |
| MUC16 | — | curated target | SNV / small indel | 41 / 523 | 7.84% | 7.69% | 2 / 2 | 7.84–12.63% | P2968H (n=1), M10796I (n=1), G7334W (n=1), L2900F (n=1), G10957C (n=1) |
| MSLN | — | curated target | amplification | 11 / 572 | 1.92% mutation 0.0% | 0.0% | 0 / 2 | 0.0–0.0% | none recurrent |
| KRAS | FDA, wild-type2009 · 3 drugs | curated target | amplification | 54 / 572 | 9.44% mutation 1.15% | 1.15% | 2 / 2 | 1.15–2.11% | G12V (n=4), G12R (n=1), Q61L (n=1) |
| ARID1A | — | curated target | deep deletion | 5 / 572 | 0.87% mutation 0.76% | 0.77% | 2 / 2 | 0.76–4.21% | S664* (n=1), Q1708* (n=1), W1073Mfs*32 (n=1), E1766* (n=1) |
| PIK3CA | FDA biomarker2019 · 1 drug | curated target | amplification | 116 / 572 | 20.28% mutation 1.53% | 1.35% | 2 / 2 | 1.53–3.16% | H1047R (n=2), E545K (n=1), E545A (n=1), E849K (n=1), E545G (n=1) |
| PTEN | — | curated target | deep deletion | 26 / 572 | 4.55% mutation 1.34% | 1.35% | 2 / 2 | 1.34–3.16% | Y188D (n=1), V175L (n=1), R233Dfs*23 (n=1), X212_splice (n=1), Y138S (n=1) |
| NF1 | FDA biomarker2020 · 1 drug | curated target | deep deletion | 36 / 572 | 6.29% mutation 5.74% | 5.77% | 2 / 2 | 3.16–5.74% | K1444E (n=1), Q112* (n=1), Y80Lfs*27 (n=1), E1583* (n=1), G2816A (n=1) |
| KMT2C | — | by frequency | amplification | 42 / 572 | 7.34% mutation 4.59% | 4.42% | 2 / 2 | 4.59–5.26% | R1861L (n=1), Y366S (n=1), H2604N (n=1), N3347S (n=1), K4229M (n=1) |
| SI | — | by frequency | amplification | 90 / 572 | 15.73% mutation 4.21% | 4.23% | 2 / 2 | 3.16–4.21% | P1202T (n=1), K206N (n=1), E1730D (n=1), T1017N (n=1), I1034F (n=1) |
| MDN1 | — | by frequency | SNV / small indel | 21 / 523 | 4.02% | 3.85% | 2 / 2 | 3.16–4.02% | R3561M (n=1), V4613D (n=1), K2999M (n=1), S5086F (n=1), D5192H (n=1) |
| FCGBP | — | by frequency | amplification | 50 / 572 | 8.74% mutation 4.02% | 4.04% | 2 / 2 | 4.02–5.26% | V5330M (n=1), C2750F (n=1), G321D (n=1), E4382V (n=1), R5092H (n=1) |
| COL6A3 | — | by frequency | SNV / small indel | 21 / 523 | 4.02% | 3.85% | 2 / 2 | 2.11–4.02% | Q348L (n=1), Q788H (n=1), G35C (n=1), X1946_splice (n=1), K1861M (n=1) |
| TG | — | by frequency | amplification | 166 / 572 | 29.02% mutation 3.82% | 3.85% | 2 / 2 | 3.82–8.42% | V478L (n=1), R2336Q (n=1), G2341V (n=1), Q1299L (n=1), S430T (n=1) |
| MYH4 | — | by frequency | SNV / small indel | 20 / 523 | 3.82% | 3.65% | 2 / 2 | 3.82–4.21% | A200S (n=1), G686C (n=1), G763C (n=1), Q1708E (n=1), E1709D (n=1) |
| MYH1 | — | by frequency | SNV / small indel | 20 / 523 | 3.82% | 3.65% | 2 / 2 | 3.16–3.82% | K1169T (n=1), R1867G (n=1), Q911K (n=1), T628M (n=1), Q806R (n=1) |
| LRP1 | — | by frequency | SNV / small indel | 20 / 523 | 3.82% | 3.46% | 2 / 2 | 2.11–3.82% | D919N (n=1), R1768S (n=1), S3977* (n=1), R1423C (n=1), R2457H (n=1) |
| TOP2A | — | by frequency | SNV / small indel | 19 / 523 | 3.63% | 3.65% | 2 / 2 | 1.05–3.63% | T215P (n=7), E212Qfs*30 (n=1), L1166F (n=1), X160_splice (n=1), M204Ifs*20 (n=1) |
| SPEN | — | by frequency | SNV / small indel | 19 / 523 | 3.63% | 3.27% | 2 / 2 | 3.16–3.63% | A3363S (n=1), A995E (n=1), R3185L (n=1), G2788R (n=1), G462E (n=1) |
| PKHD1 | — | by frequency | SNV / small indel | 19 / 523 | 3.63% | 3.46% | 2 / 2 | 3.16–3.63% | L3496W (n=1), G3454W (n=1), G1563C (n=1), V712L (n=1), V1141Dfs*49 (n=1) |
| LRRK2 | — | by frequency | SNV / small indel | 19 / 523 | 3.63% | 3.27% | 2 / 2 | 3.16–3.63% | L829I (n=1), P2095A (n=1), I952T (n=1), P1212Q (n=1), Q116K (n=1) |
| CDK12 | FDA biomarker2020 · 1 drug | by frequency | SNV / small indel | 19 / 523 | 3.63% | 3.65% | 2 / 2 | 3.16–3.63% | S363* (n=1), X343_splice (n=1), S587Y (n=1), D121Efs*5 (n=1), H835N (n=1) |
| VPS13B | — | by frequency | amplification | 62 / 572 | 10.84% mutation 3.44% | 3.08% | 2 / 2 | 3.16–3.44% | H303R (n=1), A3720S (n=1), A1013S (n=1), R1926K (n=1), G1637C (n=1) |
| PEG3 | — | by frequency | SNV / small indel | 18 / 523 | 3.44% | 3.46% | 2 / 2 | 3.16–3.44% | Q496H (n=1), R193W (n=1), I472Tfs*107 (n=1), R1138Q (n=1), E1497D (n=1) |
| DYNC1H1 | — | by frequency | SNV / small indel | 18 / 523 | 3.44% | 3.46% | 2 / 2 | 1.05–3.44% | H2637D (n=1), T4067S (n=1), D1436G (n=1), L2889* (n=1), E2587K (n=1) |
| TACC2 | — | by frequency | SNV / small indel | 17 / 523 | 3.25% | 3.27% | 2 / 2 | 2.11–3.25% | A2629V (n=1), D2268V (n=1), R606H (n=1), E1084G (n=1), S872F (n=1) |
| RELN | — | by frequency | amplification | 19 / 572 | 3.32% mutation 3.25% | 3.08% | 2 / 2 | 1.05–3.25% | X158_splice (n=1), D3348E (n=1), G1788D (n=1), C1347Y (n=1), C1347S (n=1) |
| PTPRZ1 | — | by frequency | amplification | 24 / 572 | 4.2% mutation 3.25% | 3.08% | 2 / 2 | 2.11–3.25% | D2178N (n=1), D866Y (n=1), G1739V (n=1), A1698V (n=1), G667* (n=1) |
| PDE4DIP | — | by frequency | amplification | 38 / 572 | 6.64% mutation 3.25% | 3.08% | 2 / 2 | 1.05–3.25% | E1315K (n=2), P993L (n=1), L2282M (n=1), E1147* (n=1), R419Vfs*21 (n=1) |
| RB1 | — | by frequency | deep deletion | 49 / 572 | 8.57% mutation 3.06% | 2.88% | 2 / 2 | 3.06–4.21% | A562P (n=1), I441Lfs*16 (n=1), R787* (n=1), Q702K (n=1), L486Ffs*9 (n=1) |
| PRUNE2 | — | by frequency | SNV / small indel | 16 / 523 | 3.06% | 3.08% | 2 / 2 | 2.11–3.06% | T758R (n=1), P289L (n=1), K1733N (n=1), A1525P (n=1), K350R (n=1) |
| PCDH15 | — | by frequency | SNV / small indel | 16 / 523 | 3.06% | 2.88% | 2 / 2 | 3.06–4.21% | I1063N (n=1), T1258N (n=1), P315Q (n=1), T250N (n=1), D1521N (n=1) |
| MYCBP2 | — | by frequency | SNV / small indel | 16 / 523 | 3.06% | 2.69% | 2 / 2 | 3.06–3.16% | S2691* (n=1), L1599I (n=1), L934V (n=1), L1521F (n=1), G2042A (n=1) |
| KMT2A | — | by frequency | SNV / small indel | 16 / 523 | 3.06% | 2.69% | 2 / 2 | 3.06–7.37% | S2088R (n=1), L3344F (n=1), D1693H (n=1), E1863Gfs*12 (n=1), R2480Tfs*4 (n=1) |
| HUWE1 | — | by frequency | SNV / small indel | 16 / 523 | 3.06% | 2.69% | 2 / 2 | 3.06–7.37% | S2184N (n=1), R3739L (n=1), G3139W (n=1), S1903* (n=1), L3707Q (n=1) |
| HIVEP3 | — | by frequency | amplification | 45 / 572 | 7.87% mutation 3.06% | 2.88% | 2 / 2 | 2.11–3.06% | I151M (n=1), R2171L (n=1), L1250I (n=1), S1504L (n=1), L2169V (n=1) |
| DYSF | — | by frequency | SNV / small indel | 16 / 523 | 3.06% | 2.69% | 2 / 2 | 1.05–3.06% | K1598N (n=1), N401K (n=1), T900A (n=1), G407C (n=1), W857L (n=1) |
| VWF | — | by frequency | amplification | 33 / 572 | 5.77% mutation 2.87% | 2.69% | 2 / 2 | 2.87–4.21% | S2435N (n=1), I1416M (n=1), H1419N (n=1), P828H (n=1), V775L (n=1) |
| SZT2 | — | by frequency | amplification | 38 / 572 | 6.64% mutation 2.87% | 2.5% | 2 / 2 | 1.05–2.87% | Y205* (n=1), V1546I (n=1), G2532C (n=1), R1681C (n=1), E3126V (n=1) |
| NOTCH4 | — | by frequency | amplification | 19 / 572 | 3.32% mutation 2.87% | 2.5% | 2 / 2 | 2.11–2.87% | A1175T (n=1), X813_splice (n=1), Q1982Sfs*3 (n=1), N1996Kfs*7 (n=1), M252I (n=1) |
| CACNA1C | — | by frequency | amplification | 41 / 572 | 7.17% mutation 2.87% | 2.88% | 2 / 2 | 2.87–5.26% | V1247I (n=1), L933M (n=1), A71E (n=1), A1747S (n=1), R462Q (n=1) |
| VPS13C | — | by frequency | SNV / small indel | 14 / 523 | 2.68% | 2.31% | 2 / 2 | 2.11–2.68% | E994D (n=1), Q268K (n=1), Q623K (n=1), M3080I (n=1), S1022C (n=1) |
| UBR4 | — | by frequency | SNV / small indel | 14 / 523 | 2.68% | 2.31% | 2 / 2 | 2.11–2.68% | R4115T (n=1), P2610Q (n=1), R1336L (n=1), E3604* (n=1), P2467L (n=1) |
| RNF213 | — | by frequency | amplification | 22 / 572 | 3.85% mutation 2.68% | 2.69% | 2 / 2 | 2.68–3.16% | I3332F (n=1), K2668N (n=1), D4440N (n=1), Q973H (n=1), Q197L (n=1) |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) reference | ov_tcga_pan_can_atlas_2018 | 523 observed | 523 / 585 | exome or genome | WES (523) | hg19 | SNV, small indel, amplification, deep deletion, structural variant (profile present, not read) | 3 | 56 |
| Ovarian Cancer (CPTAC GDC, 2025) | ovary_cptac_gdc | 95 observed | 95 / 112 | exome or genome | WES (95) | hg38 | SNV, small indel | 1 | 62 |
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 |
|---|---|---|---|---|---|---|
| TG | amplification | 166 | 572 | 29.02% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| PIK3CA | amplification | 116 | 572 | 20.28% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| CCNE1 | amplification | 112 | 572 | 19.58% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| SI | amplification | 90 | 572 | 15.73% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| VPS13B | amplification | 62 | 572 | 10.84% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| KRAS | amplification | 54 | 572 | 9.44% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| FCGBP | amplification | 50 | 572 | 8.74% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| RB1 | deep deletion | 49 | 572 | 8.57% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| HIVEP3 | amplification | 45 | 572 | 7.87% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| KMT2C | amplification | 42 | 572 | 7.34% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| CACNA1C | amplification | 41 | 572 | 7.17% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| PDE4DIP | amplification | 38 | 572 | 6.64% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| SZT2 | amplification | 38 | 572 | 6.64% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| NF1 | deep deletion | 36 | 572 | 6.29% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| VWF | amplification | 33 | 572 | 5.77% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| FOLR1 | amplification | 27 | 572 | 4.72% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| PTEN | deep deletion | 26 | 572 | 4.55% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| MUC16 | amplification | 24 | 572 | 4.2% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| PTPRZ1 | amplification | 24 | 572 | 4.2% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| RNF213 | amplification | 22 | 572 | 3.85% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| RELN | amplification | 19 | 572 | 3.32% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| NOTCH4 | amplification | 19 | 572 | 3.32% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| HUWE1 | amplification | 17 | 572 | 2.97% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| PKHD1 | amplification | 14 | 572 | 2.45% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| LRRK2 | amplification | 13 | 572 | 2.27% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| DYNC1H1 | amplification | 13 | 572 | 2.27% | ov_tcga_pan_can_atlas_2018 | ov_tcga_pan_can_atlas_2018_gistic |
| TACC2 | amplification | 13 | 572 | 2.27% | ov_tcga_pan_can_atlas_2018 | ov_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) |
|---|---|---|
| TP53 | 70.94–77.89% | ov_tcga_pan_can_atlas_2018: 371/523 (70.94%) · ovary_cptac_gdc: 74/95 (77.89%) |
| BRCA1 | 3.44–6.32% | ov_tcga_pan_can_atlas_2018: 18/523 (3.44%) · ovary_cptac_gdc: 6/95 (6.32%) |
| BRCA2 | 2.87–3.16% | ov_tcga_pan_can_atlas_2018: 15/523 (2.87%) · ovary_cptac_gdc: 3/95 (3.16%) |
| CCNE1 | 0.0–0.38% | ov_tcga_pan_can_atlas_2018: 2/523 (0.38%) · ovary_cptac_gdc: 0/95 (0.0%) |
| FOLR1 | 0.0–0.57% | ov_tcga_pan_can_atlas_2018: 3/523 (0.57%) · ovary_cptac_gdc: 0/95 (0.0%) |
| MUC16 | 7.84–12.63% | ov_tcga_pan_can_atlas_2018: 41/523 (7.84%) · ovary_cptac_gdc: 12/95 (12.63%) |
| MSLN | 0.0–0.0% | ov_tcga_pan_can_atlas_2018: 0/523 (0.0%) · ovary_cptac_gdc: 0/95 (0.0%) |
| KRAS | 1.15–2.11% | ov_tcga_pan_can_atlas_2018: 6/523 (1.15%) · ovary_cptac_gdc: 2/95 (2.11%) |
| ARID1A | 0.76–4.21% | ov_tcga_pan_can_atlas_2018: 4/523 (0.76%) · ovary_cptac_gdc: 4/95 (4.21%) |
| PIK3CA | 1.53–3.16% | ov_tcga_pan_can_atlas_2018: 8/523 (1.53%) · ovary_cptac_gdc: 3/95 (3.16%) |
| PTEN | 1.34–3.16% | ov_tcga_pan_can_atlas_2018: 7/523 (1.34%) · ovary_cptac_gdc: 3/95 (3.16%) |
| NF1 | 3.16–5.74% | ov_tcga_pan_can_atlas_2018: 30/523 (5.74%) · ovary_cptac_gdc: 3/95 (3.16%) |
| KMT2C | 4.59–5.26% | ov_tcga_pan_can_atlas_2018: 24/523 (4.59%) · ovary_cptac_gdc: 5/95 (5.26%) |
| SI | 3.16–4.21% | ov_tcga_pan_can_atlas_2018: 22/523 (4.21%) · ovary_cptac_gdc: 3/95 (3.16%) |
| MDN1 | 3.16–4.02% | ov_tcga_pan_can_atlas_2018: 21/523 (4.02%) · ovary_cptac_gdc: 3/95 (3.16%) |
| FCGBP | 4.02–5.26% | ov_tcga_pan_can_atlas_2018: 21/523 (4.02%) · ovary_cptac_gdc: 5/95 (5.26%) |
| COL6A3 | 2.11–4.02% | ov_tcga_pan_can_atlas_2018: 21/523 (4.02%) · ovary_cptac_gdc: 2/95 (2.11%) |
| TG | 3.82–8.42% | ov_tcga_pan_can_atlas_2018: 20/523 (3.82%) · ovary_cptac_gdc: 8/95 (8.42%) |
| MYH4 | 3.82–4.21% | ov_tcga_pan_can_atlas_2018: 20/523 (3.82%) · ovary_cptac_gdc: 4/95 (4.21%) |
| MYH1 | 3.16–3.82% | ov_tcga_pan_can_atlas_2018: 20/523 (3.82%) · ovary_cptac_gdc: 3/95 (3.16%) |
| LRP1 | 2.11–3.82% | ov_tcga_pan_can_atlas_2018: 20/523 (3.82%) · ovary_cptac_gdc: 2/95 (2.11%) |
| TOP2A | 1.05–3.63% | ov_tcga_pan_can_atlas_2018: 19/523 (3.63%) · ovary_cptac_gdc: 1/95 (1.05%) |
| SPEN | 3.16–3.63% | ov_tcga_pan_can_atlas_2018: 19/523 (3.63%) · ovary_cptac_gdc: 3/95 (3.16%) |
| PKHD1 | 3.16–3.63% | ov_tcga_pan_can_atlas_2018: 19/523 (3.63%) · ovary_cptac_gdc: 3/95 (3.16%) |
| LRRK2 | 3.16–3.63% | ov_tcga_pan_can_atlas_2018: 19/523 (3.63%) · ovary_cptac_gdc: 3/95 (3.16%) |
| CDK12 | 3.16–3.63% | ov_tcga_pan_can_atlas_2018: 19/523 (3.63%) · ovary_cptac_gdc: 3/95 (3.16%) |
| VPS13B | 3.16–3.44% | ov_tcga_pan_can_atlas_2018: 18/523 (3.44%) · ovary_cptac_gdc: 3/95 (3.16%) |
| PEG3 | 3.16–3.44% | ov_tcga_pan_can_atlas_2018: 18/523 (3.44%) · ovary_cptac_gdc: 3/95 (3.16%) |
| DYNC1H1 | 1.05–3.44% | ov_tcga_pan_can_atlas_2018: 18/523 (3.44%) · ovary_cptac_gdc: 1/95 (1.05%) |
| TACC2 | 2.11–3.25% | ov_tcga_pan_can_atlas_2018: 17/523 (3.25%) · ovary_cptac_gdc: 2/95 (2.11%) |
| RELN | 1.05–3.25% | ov_tcga_pan_can_atlas_2018: 17/523 (3.25%) · ovary_cptac_gdc: 1/95 (1.05%) |
| PTPRZ1 | 2.11–3.25% | ov_tcga_pan_can_atlas_2018: 17/523 (3.25%) · ovary_cptac_gdc: 2/95 (2.11%) |
| PDE4DIP | 1.05–3.25% | ov_tcga_pan_can_atlas_2018: 17/523 (3.25%) · ovary_cptac_gdc: 1/95 (1.05%) |
| RB1 | 3.06–4.21% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 4/95 (4.21%) |
| PRUNE2 | 2.11–3.06% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 2/95 (2.11%) |
| PCDH15 | 3.06–4.21% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 4/95 (4.21%) |
| MYCBP2 | 3.06–3.16% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 3/95 (3.16%) |
| KMT2A | 3.06–7.37% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 7/95 (7.37%) |
| HUWE1 | 3.06–7.37% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 7/95 (7.37%) |
| HIVEP3 | 2.11–3.06% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 2/95 (2.11%) |
| DYSF | 1.05–3.06% | ov_tcga_pan_can_atlas_2018: 16/523 (3.06%) · ovary_cptac_gdc: 1/95 (1.05%) |
| VWF | 2.87–4.21% | ov_tcga_pan_can_atlas_2018: 15/523 (2.87%) · ovary_cptac_gdc: 4/95 (4.21%) |
| SZT2 | 1.05–2.87% | ov_tcga_pan_can_atlas_2018: 15/523 (2.87%) · ovary_cptac_gdc: 1/95 (1.05%) |
| NOTCH4 | 2.11–2.87% | ov_tcga_pan_can_atlas_2018: 15/523 (2.87%) · ovary_cptac_gdc: 2/95 (2.11%) |
| CACNA1C | 2.87–5.26% | ov_tcga_pan_can_atlas_2018: 15/523 (2.87%) · ovary_cptac_gdc: 5/95 (5.26%) |
| VPS13C | 2.11–2.68% | ov_tcga_pan_can_atlas_2018: 14/523 (2.68%) · ovary_cptac_gdc: 2/95 (2.11%) |
| UBR4 | 2.11–2.68% | ov_tcga_pan_can_atlas_2018: 14/523 (2.68%) · ovary_cptac_gdc: 2/95 (2.11%) |
| RNF213 | 2.68–3.16% | ov_tcga_pan_can_atlas_2018: 14/523 (2.68%) · ovary_cptac_gdc: 3/95 (3.16%) |
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.
- Promoter mutations are a separate row. A cohort that reports none is marked not assayed, not zero: whole-exome studies such as the TCGA pan-cancer atlas do not cover the TERT promoter, so a low coding-only TERT figure there is not a low TERT rate.
- 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/ovarian-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.