Disease intelligence · mutation landscape
Colorectal cancer mutation landscape
How often each gene is altered in colorectal 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 TCGA PanCancer Atlas colorectal (2018) (534 sequenced patients, exome or genome), the most frequently altered of the 46 genes shown are APC 72.47%, TP53 58.43%, KRAS 40.82%, PIK3CA 27.53%, FBXW7 16.85%. Each figure divides by the patients on whom that gene could be called.
60 of 534 patients are hypermutated (more than 1010 non-silent mutations, ten times the cohort median of 101); 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 (NTRK1, CEACAM5): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.
3 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 | coadread_tcga_pan_can_atlas_2018 534 pts · exome or genome | coadread_dfci_2016 619 pts · exome or genome | crc_msk_2017 1099 pts · targeted panel |
|---|---|---|---|
| APC SNV / small indel | 72.47%387/534 | 58.32%361/619 | 76.98%846/1099 |
| APC deep deletion | 3.04%18/592 | · | 0.64%7/1099 |
| KRAS SNV / small indel | 40.82%218/534 | 27.95%173/619 | 44.22%486/1099 |
| TP53 SNV / small indel | 58.43%312/534 | 51.05%316/619 | 72.7%799/1099 |
| SMAD4 SNV / small indel | 12.55%67/534 | 11.63%72/619 | 15.2%167/1099 |
| SMAD4 deep deletion | 4.73%28/592 | · | 3.73%41/1099 |
| BRAF SNV / small indel | 11.61%62/534 | 20.52%127/619 | 10.83%119/1099 |
| EGFR SNV / small indel | 2.62%14/534 | 4.52%28/619 | 2.73%30/1099 |
| ERBB2 SNV / small indel | 3.56%19/534 | 5.82%36/619 | 4.73%52/1099 |
| ERBB2 amplification | 3.38%20/592 | · | 3.09%34/1099 |
| PIK3CA SNV / small indel | 27.53%147/534 | 21.32%132/619 | 20.38%224/1099 |
| MLH1 SNV / small indel | 4.12%22/534 | 3.88%24/619 | 1.82%20/1099 |
| MSH2 SNV / small indel | 3.93%21/534 | 1.94%12/619 | 2.82%31/1099 |
| NTRK1 SNV / small indel | 1.69%9/534 | 3.55%22/619 | 3.18%35/1099 |
| CEACAM5 SNV / small indel | 1.31%7/534 | 1.45%9/619 | · |
| FBXW7 SNV / small indel | 16.85%90/534 | 13.73%85/619 | 12.83%141/1099 |
| SDK1 SNV / small indel | 13.11%70/534 | 14.86%92/619 | · |
| UNC80 SNV / small indel | 12.92%69/534 | 0.97%6/619 | · |
| ATM SNV / small indel | 12.92%69/534 | 9.37%58/619 | 7.55%83/1099 |
| DCHS2 SNV / small indel | 12.55%67/534 | 7.92%49/619 | · |
| AMER1 SNV / small indel | 12.55%67/534 | 8.4%52/619 | 5.91%65/1099 |
| COL6A3 SNV / small indel | 12.17%65/534 | 10.34%64/619 | · |
| CACNA1E SNV / small indel | 12.17%65/534 | 6.95%43/619 | · |
| SOX9 SNV / small indel | 11.99%64/534 | 10.02%62/619 | 9.65%106/1099 |
| PCDH15 SNV / small indel | 11.8%63/534 | 9.05%56/619 | · |
| NBEA SNV / small indel | 11.61%62/534 | 7.43%46/619 | · |
| NBEA amplification | 2.87%17/592 | · | 0% |
| KMT2D SNV / small indel | 11.61%62/534 | 12.28%76/619 | 9.55%105/1099 |
| COL12A1 SNV / small indel | 11.61%62/534 | 8.56%53/619 | · |
| MDN1 SNV / small indel | 11.42%61/534 | 12.44%77/619 | · |
| BLTP1 SNV / small indel | 11.24%60/534 | 9.21%57/619 | · |
| VPS13B SNV / small indel | 11.05%59/534 | 9.21%57/619 | · |
| VPS13B amplification | 2.87%17/592 | · | 0% |
| TRPS1 SNV / small indel | 11.05%59/534 | 9.05%56/619 | · |
| TRPS1 amplification | 3.38%20/592 | · | 0% |
| UNC13C SNV / small indel | 10.86%58/534 | 6.62%41/619 | · |
| TCF7L2 SNV / small indel | 10.86%58/534 | 6.95%43/619 | 13.56%122/900 |
| PCDH17 SNV / small indel | 10.86%58/534 | 12.76%79/619 | · |
| KMT2B SNV / small indel | 10.86%58/534 | 6.79%42/619 | 11.11%1/9 |
| ROBO2 SNV / small indel | 10.67%57/534 | 7.75%48/619 | · |
| HECW1 SNV / small indel | 10.67%57/534 | 8.4%52/619 | · |
| ARID1A SNV / small indel | 10.67%57/534 | 10.82%67/619 | 9.46%104/1099 |
| PTPRT SNV / small indel | 10.49%56/534 | 8.4%52/619 | 6.92%76/1099 |
| PTPRT amplification | 7.43%44/592 | · | 2.73%30/1099 |
| PKHD1 SNV / small indel | 10.49%56/534 | 9.37%58/619 | · |
| MYCBP2 SNV / small indel | 10.49%56/534 | 8.72%54/619 | · |
| FREM2 SNV / small indel | 10.49%56/534 | 9.37%58/619 | · |
| FREM2 amplification | 3.04%18/592 | · | 0% |
| FAT2 SNV / small indel | 10.49%56/534 | 12.28%76/619 | · |
| FAT1 SNV / small indel | 10.49%56/534 | 10.5%65/619 | 7.01%77/1099 |
| FAT1 deep deletion | 2.36%14/592 | · | 1.09%12/1099 |
| EYS SNV / small indel | 10.49%56/534 | 1.94%12/619 | · |
| RNF213 SNV / small indel | 10.3%55/534 | 12.76%79/619 | · |
| RELN SNV / small indel | 10.3%55/534 | 8.89%55/619 | · |
| KMT2C SNV / small indel | 10.3%55/534 | 14.05%87/619 | 6.1%67/1099 |
observed — shade scales with frequency, full at 30% assayed, none found not on this cohort's panel cohort not readable
Key findings
APC is mutated in 387 of 534 patients in TCGA PanCancer Atlas colorectal (2018).
TP53 is mutated in 312 of 534 patients in TCGA PanCancer Atlas colorectal (2018).
KRAS is mutated in 218 of 534 patients in TCGA PanCancer Atlas colorectal (2018).
Gene table — reference cohort
Headline values are from the reference cohort, coadread_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 |
|---|---|---|---|---|---|---|---|---|
| APC | curated target | SNV / small indel | 387 / 534 | 72.47% | 74.89% | 3 / 3 | 58.32–76.98% | R1450* (n=34), R876* (n=23), R1114* (n=19), R213* (n=18), R216* (n=14) |
| KRAS | curated target | SNV / small indel | 218 / 534 | 40.82% | 42.62% | 3 / 3 | 27.95–44.22% | G12D (n=58), G12V (n=49), G13D (n=37), A146T (n=16), G12C (n=15) |
| TP53 | curated target | SNV / small indel | 312 / 534 | 58.43% | 61.6% | 3 / 3 | 51.05–72.7% | R175H (n=32), R282W (n=20), R248Q (n=18), R273H (n=17), R248W (n=15) |
| SMAD4 | curated target | SNV / small indel | 67 / 534 | 12.55% | 11.6% | 3 / 3 | 11.63–15.2% | R361H (n=11), R361C (n=4), S32* (n=3), D537H (n=3), S232Qfs*3 (n=2) |
| BRAF | curated target | SNV / small indel | 62 / 534 | 11.61% | 5.06% | 3 / 3 | 10.83–20.52% | V600E (n=48), D594N (n=2), L597V (n=1), P403Lfs*8 (n=1), K205Q (n=1) |
| EGFR | curated target | SNV / small indel | 14 / 534 | 2.62% | 1.05% | 3 / 3 | 2.62–4.52% | A1000V (n=1), D1152N (n=1), P596L (n=1), R222C (n=1), R831H (n=1) |
| ERBB2 | curated target | SNV / small indel | 19 / 534 | 3.56% | 2.53% | 3 / 3 | 3.56–5.82% | V842I (n=3), V777L (n=2), R678Q (n=1), K1177E (n=1), G439D (n=1) |
| PIK3CA | curated target | SNV / small indel | 147 / 534 | 27.53% | 24.89% | 3 / 3 | 20.38–27.53% | E545K (n=35), H1047R (n=18), R88Q (n=15), E542K (n=13), C420R (n=4) |
| MLH1 | curated target | SNV / small indel | 22 / 534 | 4.12% | 2.32% | 3 / 3 | 1.82–4.12% | K618del (n=2), G67R (n=2), V16M (n=1), L697I (n=1), R9Q (n=1) |
| MSH2 | curated target | SNV / small indel | 21 / 534 | 3.93% | 1.05% | 3 / 3 | 1.94–3.93% | E580* (n=2), R406Q (n=2), C697Y (n=1), S168P (n=1), N799del (n=1) |
| NTRK1 | curated target | SNV / small indel | 9 / 534 | 1.69% | 0.84% | 3 / 3 | 1.69–3.55% | V341M (n=2), R673G (n=1), R692C (n=1), R104H (n=1), E755* (n=1) |
| CEACAM5 | curated target | SNV / small indel | 7 / 534 | 1.31% | 0.42% | 2 / 3 | 1.31–1.45% | R225C (n=2), L640I (n=2), S603L (n=1), R581H (n=1), G196R (n=1) |
| FBXW7 | by frequency | SNV / small indel | 90 / 534 | 16.85% | 13.71% | 3 / 3 | 12.83–16.85% | R465H (n=12), R465C (n=9), R367* (n=6), S582L (n=5), R505C (n=5) |
| SDK1 | by frequency | SNV / small indel | 70 / 534 | 13.11% | 8.23% | 2 / 3 | 13.11–14.86% | R820W (n=3), T1181M (n=3), R780W (n=2), R172Q (n=2), R121H (n=2) |
| UNC80 | by frequency | SNV / small indel | 69 / 534 | 12.92% | 8.65% | 2 / 3 | 0.97–12.92% | R174Q (n=2), R1025W (n=2), D1319Y (n=1), E480K (n=1), D1505N (n=1) |
| ATM | by frequency | SNV / small indel | 69 / 534 | 12.92% | 7.17% | 3 / 3 | 7.55–12.92% | R337C (n=5), R250* (n=4), R1730* (n=3), R337H (n=2), F61Lfs*15 (n=2) |
| DCHS2 | by frequency | SNV / small indel | 67 / 534 | 12.55% | 6.12% | 2 / 3 | 7.92–12.55% | R129W (n=2), F2149L (n=2), A143T (n=2), G474R (n=2), Q841Pfs*31 (n=1) |
| AMER1 | by frequency | SNV / small indel | 67 / 534 | 12.55% | 9.92% | 3 / 3 | 5.91–12.55% | R497* (n=5), F173Lfs*36 (n=5), R353* (n=4), R358* (n=4), R601* (n=4) |
| COL6A3 | by frequency | SNV / small indel | 65 / 534 | 12.17% | 7.81% | 2 / 3 | 10.34–12.17% | A611T (n=3), A325T (n=3), D2792N (n=2), T2879M (n=2), D2619N (n=2) |
| CACNA1E | by frequency | SNV / small indel | 65 / 534 | 12.17% | 7.59% | 2 / 3 | 6.95–12.17% | R1901C (n=2), A802V (n=2), X1240_splice (n=2), A1240V (n=1), Q223* (n=1) |
| SOX9 | by frequency | SNV / small indel | 64 / 534 | 11.99% | 12.03% | 3 / 3 | 9.65–11.99% | R257Afs*39 (n=3), K167del (n=3), Q164P (n=2), P176S (n=2), D274Wfs*6 (n=2) |
| PCDH15 | by frequency | SNV / small indel | 63 / 534 | 11.8% | 6.96% | 2 / 3 | 9.05–11.8% | T301M (n=2), R1545I (n=2), K1263Rfs*2 (n=2), P376R (n=1), A1610T (n=1) |
| NBEA | by frequency | SNV / small indel | 62 / 534 | 11.61% | 6.75% | 2 / 3 | 7.43–11.61% | E1710K (n=4), R744I (n=3), E103* (n=2), R2412Q (n=2), N1121Mfs*9 (n=2) |
| KMT2D | by frequency | SNV / small indel | 62 / 534 | 11.61% | 4.64% | 3 / 3 | 9.55–12.28% | P2354Lfs*30 (n=7), R5351L (n=2), A2133T (n=2), R5454Q (n=2), R4960* (n=1) |
| COL12A1 | by frequency | SNV / small indel | 62 / 534 | 11.61% | 6.33% | 2 / 3 | 8.56–11.61% | K2532N (n=2), D910Y (n=2), G2104D (n=1), Y512D (n=1), A1867T (n=1) |
| MDN1 | by frequency | SNV / small indel | 61 / 534 | 11.42% | 5.91% | 2 / 3 | 11.42–12.44% | K2642Nfs*17 (n=2), R5570* (n=2), R4142H (n=2), F2691Lfs*7 (n=2), R3762C (n=2) |
| BLTP1 | by frequency | SNV / small indel | 60 / 534 | 11.24% | 5.7% | 2 / 3 | 9.21–11.24% | S4937Y (n=3), R4774C (n=2), K1797N (n=2), N2385S (n=1), P983L (n=1) |
| VPS13B | by frequency | SNV / small indel | 59 / 534 | 11.05% | 5.49% | 2 / 3 | 9.21–11.05% | R2303W (n=2), F1430L (n=2), A3634T (n=2), L58* (n=2), L90* (n=1) |
| TRPS1 | by frequency | SNV / small indel | 59 / 534 | 11.05% | 6.75% | 2 / 3 | 9.05–11.05% | R1112W (n=2), E349K (n=2), H1014R (n=1), L958R (n=1), Y434H (n=1) |
| UNC13C | by frequency | SNV / small indel | 58 / 534 | 10.86% | 7.59% | 2 / 3 | 6.62–10.86% | E2199* (n=4), G2150R (n=3), R182Q (n=3), R832I (n=2), F1525Lfs*3 (n=2) |
| TCF7L2 | by frequency | SNV / small indel | 58 / 534 | 10.86% | 8.65% | 3 / 3 | 6.95–13.56% | R471C (n=4), L200Sfs*25 (n=4), R420W (n=3), R455* (n=2), R471H (n=2) |
| PCDH17 | by frequency | SNV / small indel | 58 / 534 | 10.86% | 6.96% | 2 / 3 | 10.86–12.76% | V478M (n=2), A225T (n=2), L1072V (n=2), V692A (n=1), G39S (n=1) |
| KMT2B | by frequency | SNV / small indel | 58 / 534 | 10.86% | 5.06% | 3 / 3 | 6.79–11.11% | G1879Vfs*16 (n=4), R2332C (n=2), E324K (n=2), R1517* (n=2), R1302C (n=2) |
| ROBO2 | by frequency | SNV / small indel | 57 / 534 | 10.67% | 7.17% | 2 / 3 | 7.75–10.67% | R1135* (n=2), V42I (n=2), R479W (n=1), S932T (n=1), R785Q (n=1) |
| HECW1 | by frequency | SNV / small indel | 57 / 534 | 10.67% | 7.59% | 2 / 3 | 8.4–10.67% | P1247L (n=2), R1461C (n=2), R995H (n=2), A1167V (n=1), Q395R (n=1) |
| ARID1A | by frequency | SNV / small indel | 57 / 534 | 10.67% | 5.91% | 3 / 3 | 9.46–10.82% | F2141Sfs*59 (n=5), D1850Tfs*33 (n=5), R1989* (n=4), Q521* (n=2), K1072Nfs*21 (n=2) |
| PTPRT | by frequency | SNV / small indel | 56 / 534 | 10.49% | 7.81% | 3 / 3 | 6.92–10.49% | R1226* (n=2), P386L (n=2), A731T (n=2), R1086C (n=1), G855R (n=1) |
| PKHD1 | by frequency | SNV / small indel | 56 / 534 | 10.49% | 5.91% | 2 / 3 | 9.37–10.49% | S1400L (n=1), R3913C (n=1), V3412A (n=1), P724T (n=1), P1545Qfs*47 (n=1) |
| MYCBP2 | by frequency | SNV / small indel | 56 / 534 | 10.49% | 4.01% | 2 / 3 | 8.72–10.49% | R1103* (n=2), E168D (n=1), R3947C (n=1), R4035H (n=1), F1199V (n=1) |
| FREM2 | by frequency | SNV / small indel | 56 / 534 | 10.49% | 6.33% | 2 / 3 | 9.37–10.49% | R2278C (n=2), V795M (n=2), P555L (n=1), R2527H (n=1), R1520W (n=1) |
| FAT2 | by frequency | SNV / small indel | 56 / 534 | 10.49% | 6.12% | 2 / 3 | 10.49–12.28% | R3265H (n=2), R973Q (n=2), R2728W (n=2), S4334F (n=1), Q1857R (n=1) |
| FAT1 | by frequency | SNV / small indel | 56 / 534 | 10.49% | 3.59% | 3 / 3 | 7.01–10.5% | D2382N (n=2), R227C (n=2), F4273L (n=2), R1453H (n=1), T4422A (n=1) |
| EYS | by frequency | SNV / small indel | 56 / 534 | 10.49% | 6.54% | 2 / 3 | 1.94–10.49% | X1882_splice (n=2), C189Y (n=1), K220Nfs*37 (n=1), R1877W (n=1), L3100I (n=1) |
| RNF213 | by frequency | SNV / small indel | 55 / 534 | 10.3% | 5.49% | 2 / 3 | 10.3–12.76% | Y2351F (n=1), D2640G (n=1), P305del (n=1), L110M (n=1), K2426E (n=1) |
| RELN | by frequency | SNV / small indel | 55 / 534 | 10.3% | 5.91% | 2 / 3 | 8.89–10.3% | S1378F (n=2), R1727W (n=2), F2722L (n=2), A924E (n=1), F1365I (n=1) |
| KMT2C | by frequency | SNV / small indel | 55 / 534 | 10.3% | 5.7% | 3 / 3 | 6.1–14.05% | F4496Lfs*21 (n=3), R839T (n=1), K3609Rfs*20 (n=1), P4033L (n=1), W4352Mfs*17 (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 |
|---|---|---|---|---|---|---|---|---|---|
| TCGA PanCancer Atlas colorectal (2018) reference | coadread_tcga_pan_can_atlas_2018 | 534 observed | 534 / 594 | exome or genome | WES (534) | hg19 | SNV, small indel, amplification, deep deletion, structural variant (profile present, not read) | 60 | 101.0 |
| DFCI colorectal (Cell Reports 2016) | coadread_dfci_2016 | 619 observed | 619 / 619 | exome or genome | WES (619) | hg19 | SNV, small indel | 19 | 142 |
| MSK metastatic colorectal (Cancer Cell 2018) | crc_msk_2017 | 1099 observed | 1134 / 1134 | targeted panel | IMPACT410 (911), IMPACT341 (214), IMPACT468 (9) | hg19 | SNV, small indel, amplification, deep deletion, structural variant (profile present, not read) | 11 | 7.0 |
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 |
|---|---|---|---|---|---|---|
| PTPRT | amplification | 44 | 592 | 7.43% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| SMAD4 | deep deletion | 28 | 592 | 4.73% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| SMAD4 | deep deletion | 41 | 1099 | 3.73% | crc_msk_2017 | crc_msk_2017_gistic |
| ERBB2 | amplification | 20 | 592 | 3.38% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| TRPS1 | amplification | 20 | 592 | 3.38% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| ERBB2 | amplification | 34 | 1099 | 3.09% | crc_msk_2017 | crc_msk_2017_gistic |
| APC | deep deletion | 18 | 592 | 3.04% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| FREM2 | amplification | 18 | 592 | 3.04% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| NBEA | amplification | 17 | 592 | 2.87% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| VPS13B | amplification | 17 | 592 | 2.87% | coadread_tcga_pan_can_atlas_2018 | coadread_tcga_pan_can_atlas_2018_gistic |
| PTPRT | amplification | 30 | 1099 | 2.73% | crc_msk_2017 | crc_msk_2017_gistic |
| FAT1 | deep deletion | 14 | 592 | 2.36% | coadread_tcga_pan_can_atlas_2018 | coadread_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) |
|---|---|---|
| APC | 58.32–76.98% | coadread_tcga_pan_can_atlas_2018: 387/534 (72.47%) · coadread_dfci_2016: 361/619 (58.32%) · crc_msk_2017: 846/1099 (76.98%) |
| KRAS | 27.95–44.22% | coadread_tcga_pan_can_atlas_2018: 218/534 (40.82%) · coadread_dfci_2016: 173/619 (27.95%) · crc_msk_2017: 486/1099 (44.22%) |
| TP53 | 51.05–72.7% | coadread_tcga_pan_can_atlas_2018: 312/534 (58.43%) · coadread_dfci_2016: 316/619 (51.05%) · crc_msk_2017: 799/1099 (72.7%) |
| SMAD4 | 11.63–15.2% | coadread_tcga_pan_can_atlas_2018: 67/534 (12.55%) · coadread_dfci_2016: 72/619 (11.63%) · crc_msk_2017: 167/1099 (15.2%) |
| BRAF | 10.83–20.52% | coadread_tcga_pan_can_atlas_2018: 62/534 (11.61%) · coadread_dfci_2016: 127/619 (20.52%) · crc_msk_2017: 119/1099 (10.83%) |
| EGFR | 2.62–4.52% | coadread_tcga_pan_can_atlas_2018: 14/534 (2.62%) · coadread_dfci_2016: 28/619 (4.52%) · crc_msk_2017: 30/1099 (2.73%) |
| ERBB2 | 3.56–5.82% | coadread_tcga_pan_can_atlas_2018: 19/534 (3.56%) · coadread_dfci_2016: 36/619 (5.82%) · crc_msk_2017: 52/1099 (4.73%) |
| PIK3CA | 20.38–27.53% | coadread_tcga_pan_can_atlas_2018: 147/534 (27.53%) · coadread_dfci_2016: 132/619 (21.32%) · crc_msk_2017: 224/1099 (20.38%) |
| MLH1 | 1.82–4.12% | coadread_tcga_pan_can_atlas_2018: 22/534 (4.12%) · coadread_dfci_2016: 24/619 (3.88%) · crc_msk_2017: 20/1099 (1.82%) |
| MSH2 | 1.94–3.93% | coadread_tcga_pan_can_atlas_2018: 21/534 (3.93%) · coadread_dfci_2016: 12/619 (1.94%) · crc_msk_2017: 31/1099 (2.82%) |
| NTRK1 | 1.69–3.55% | coadread_tcga_pan_can_atlas_2018: 9/534 (1.69%) · coadread_dfci_2016: 22/619 (3.55%) · crc_msk_2017: 35/1099 (3.18%) |
| CEACAM5 | 1.31–1.45% | coadread_tcga_pan_can_atlas_2018: 7/534 (1.31%) · coadread_dfci_2016: 9/619 (1.45%) · crc_msk_2017: not assayed |
| FBXW7 | 12.83–16.85% | coadread_tcga_pan_can_atlas_2018: 90/534 (16.85%) · coadread_dfci_2016: 85/619 (13.73%) · crc_msk_2017: 141/1099 (12.83%) |
| SDK1 | 13.11–14.86% | coadread_tcga_pan_can_atlas_2018: 70/534 (13.11%) · coadread_dfci_2016: 92/619 (14.86%) · crc_msk_2017: not assayed |
| UNC80 | 0.97–12.92% | coadread_tcga_pan_can_atlas_2018: 69/534 (12.92%) · coadread_dfci_2016: 6/619 (0.97%) · crc_msk_2017: not assayed |
| ATM | 7.55–12.92% | coadread_tcga_pan_can_atlas_2018: 69/534 (12.92%) · coadread_dfci_2016: 58/619 (9.37%) · crc_msk_2017: 83/1099 (7.55%) |
| DCHS2 | 7.92–12.55% | coadread_tcga_pan_can_atlas_2018: 67/534 (12.55%) · coadread_dfci_2016: 49/619 (7.92%) · crc_msk_2017: not assayed |
| AMER1 | 5.91–12.55% | coadread_tcga_pan_can_atlas_2018: 67/534 (12.55%) · coadread_dfci_2016: 52/619 (8.4%) · crc_msk_2017: 65/1099 (5.91%) |
| COL6A3 | 10.34–12.17% | coadread_tcga_pan_can_atlas_2018: 65/534 (12.17%) · coadread_dfci_2016: 64/619 (10.34%) · crc_msk_2017: not assayed |
| CACNA1E | 6.95–12.17% | coadread_tcga_pan_can_atlas_2018: 65/534 (12.17%) · coadread_dfci_2016: 43/619 (6.95%) · crc_msk_2017: not assayed |
| SOX9 | 9.65–11.99% | coadread_tcga_pan_can_atlas_2018: 64/534 (11.99%) · coadread_dfci_2016: 62/619 (10.02%) · crc_msk_2017: 106/1099 (9.65%) |
| PCDH15 | 9.05–11.8% | coadread_tcga_pan_can_atlas_2018: 63/534 (11.8%) · coadread_dfci_2016: 56/619 (9.05%) · crc_msk_2017: not assayed |
| NBEA | 7.43–11.61% | coadread_tcga_pan_can_atlas_2018: 62/534 (11.61%) · coadread_dfci_2016: 46/619 (7.43%) · crc_msk_2017: not assayed |
| KMT2D | 9.55–12.28% | coadread_tcga_pan_can_atlas_2018: 62/534 (11.61%) · coadread_dfci_2016: 76/619 (12.28%) · crc_msk_2017: 105/1099 (9.55%) |
| COL12A1 | 8.56–11.61% | coadread_tcga_pan_can_atlas_2018: 62/534 (11.61%) · coadread_dfci_2016: 53/619 (8.56%) · crc_msk_2017: not assayed |
| MDN1 | 11.42–12.44% | coadread_tcga_pan_can_atlas_2018: 61/534 (11.42%) · coadread_dfci_2016: 77/619 (12.44%) · crc_msk_2017: not assayed |
| BLTP1 | 9.21–11.24% | coadread_tcga_pan_can_atlas_2018: 60/534 (11.24%) · coadread_dfci_2016: 57/619 (9.21%) · crc_msk_2017: not assayed |
| VPS13B | 9.21–11.05% | coadread_tcga_pan_can_atlas_2018: 59/534 (11.05%) · coadread_dfci_2016: 57/619 (9.21%) · crc_msk_2017: not assayed |
| TRPS1 | 9.05–11.05% | coadread_tcga_pan_can_atlas_2018: 59/534 (11.05%) · coadread_dfci_2016: 56/619 (9.05%) · crc_msk_2017: not assayed |
| UNC13C | 6.62–10.86% | coadread_tcga_pan_can_atlas_2018: 58/534 (10.86%) · coadread_dfci_2016: 41/619 (6.62%) · crc_msk_2017: not assayed |
| TCF7L2 | 6.95–13.56% | coadread_tcga_pan_can_atlas_2018: 58/534 (10.86%) · coadread_dfci_2016: 43/619 (6.95%) · crc_msk_2017: 122/900 (13.56%) |
| PCDH17 | 10.86–12.76% | coadread_tcga_pan_can_atlas_2018: 58/534 (10.86%) · coadread_dfci_2016: 79/619 (12.76%) · crc_msk_2017: not assayed |
| KMT2B | 6.79–11.11% | coadread_tcga_pan_can_atlas_2018: 58/534 (10.86%) · coadread_dfci_2016: 42/619 (6.79%) · crc_msk_2017: 1/9 (11.11%) |
| ROBO2 | 7.75–10.67% | coadread_tcga_pan_can_atlas_2018: 57/534 (10.67%) · coadread_dfci_2016: 48/619 (7.75%) · crc_msk_2017: not assayed |
| HECW1 | 8.4–10.67% | coadread_tcga_pan_can_atlas_2018: 57/534 (10.67%) · coadread_dfci_2016: 52/619 (8.4%) · crc_msk_2017: not assayed |
| ARID1A | 9.46–10.82% | coadread_tcga_pan_can_atlas_2018: 57/534 (10.67%) · coadread_dfci_2016: 67/619 (10.82%) · crc_msk_2017: 104/1099 (9.46%) |
| PTPRT | 6.92–10.49% | coadread_tcga_pan_can_atlas_2018: 56/534 (10.49%) · coadread_dfci_2016: 52/619 (8.4%) · crc_msk_2017: 76/1099 (6.92%) |
| PKHD1 | 9.37–10.49% | coadread_tcga_pan_can_atlas_2018: 56/534 (10.49%) · coadread_dfci_2016: 58/619 (9.37%) · crc_msk_2017: not assayed |
| MYCBP2 | 8.72–10.49% | coadread_tcga_pan_can_atlas_2018: 56/534 (10.49%) · coadread_dfci_2016: 54/619 (8.72%) · crc_msk_2017: not assayed |
| FREM2 | 9.37–10.49% | coadread_tcga_pan_can_atlas_2018: 56/534 (10.49%) · coadread_dfci_2016: 58/619 (9.37%) · crc_msk_2017: not assayed |
| FAT2 | 10.49–12.28% | coadread_tcga_pan_can_atlas_2018: 56/534 (10.49%) · coadread_dfci_2016: 76/619 (12.28%) · crc_msk_2017: not assayed |
| FAT1 | 7.01–10.5% | coadread_tcga_pan_can_atlas_2018: 56/534 (10.49%) · coadread_dfci_2016: 65/619 (10.5%) · crc_msk_2017: 77/1099 (7.01%) |
| EYS | 1.94–10.49% | coadread_tcga_pan_can_atlas_2018: 56/534 (10.49%) · coadread_dfci_2016: 12/619 (1.94%) · crc_msk_2017: not assayed |
| RNF213 | 10.3–12.76% | coadread_tcga_pan_can_atlas_2018: 55/534 (10.3%) · coadread_dfci_2016: 79/619 (12.76%) · crc_msk_2017: not assayed |
| RELN | 8.89–10.3% | coadread_tcga_pan_can_atlas_2018: 55/534 (10.3%) · coadread_dfci_2016: 55/619 (8.89%) · crc_msk_2017: not assayed |
| KMT2C | 6.1–14.05% | coadread_tcga_pan_can_atlas_2018: 55/534 (10.3%) · coadread_dfci_2016: 87/619 (14.05%) · crc_msk_2017: 67/1099 (6.1%) |
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 2026-09-17; 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/colorectal-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.