Cancer genes that have other mutations.
This table is a list of the cancer genes that are characterised by other types of mutations primarily small in-frame deletions and insertions as found in KIT/PDGFRA and larger duplications/insertions as found in FLT3 and EGFR. The full version of this table can be downloaded here .This is part of Table 1 in Futreal et al.
| Symbol | Name | Entrez GeneID | Tumour Types (Somatic Mutations) | Tumour Types (Germline Mutations) | Cancer Syndrome | Synonyms |
|---|---|---|---|---|---|---|
| BAP1 | BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) | 8314 | uveal melanoma, breast, NSCLC, RCC | mesothelioma, uveal melanoma | 8314, BAP1, CCDS2853.1, DKFZp686N04275, ENSG00000163930, FLJ35406, FLJ37180, HUCEP-13, KIAA0272, Q92560, hucep-6 | |
| BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 673 | melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma | 673, B-raf 1, B-raf1, BRAF, BRAF1, CCDS5863.1, ENSG00000157764, MGC126806, MGC138284, P15056, RAFB1 | ||
| CBL | Cas-Br-M (murine) ecotropic retroviral transforming | 867 | AML, JMML, MDS | 867, C-CBL, CBL, CBL2, CCDS8418.1, ENSG00000110395, RNF55 | ||
| CD79A | CD79a molecule, immunoglobulin-associated alpha | 973 | DLBCL | 973, CCDS12589.1, CD79A, ENSG00000105369, IGA, MB-1, P11912, Q53FB8 | ||
| CD79B | CD79b molecule, immunoglobulin-associated beta | 974 | DLBCL | 974, B29, CCDS11655.1, CD79B, ENSG00000007312, IGB, P40259 | ||
| CREBBP | CREB binding protein (CBP) | 1387 | ALL, AML, DLBCL, B-NHL | 1387, CBP, CCDS10509.1, CREBBP, ENSG00000005339, RSTS, RTS | ||
| DNM2 | dynamin 2 | 1785 | ETP ALL | 1785, CCDS32907.1, CMTDI1, CMTDIB, DNM2, DYN2, DYNII, ENSG00000079805, Q9UPH5 | ||
| EGFR | epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) | 1956 | glioma, NSCLC | NSCLC | Familial lung cancer | 1956, CCDS5514.1, EGFR, ENSG00000146648, ERBB, ERBB1, P00533, mENA |
| EP300 | 300 kd E1A-Binding protein gene | 2033 | colorectal, breast, pancreatic, AML, ALL, DLBCL | 2033, CCDS14010.1, ENSG00000100393, EP300, RP1-85F18_1, p300 | ||
| ERBB2 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) | 2064 | breast, ovarian, other tumour types, NSCLC, gastric | 2064, ENSG00000141736, ERBB2, HER-2, HER-2/neu, HER2, NEU, NGL, P04626, TKR1, c-erb B2, c-erbB2 | ||
| FAM46C | family with sequence similarity 46, member C | 54855 | MM | 54855, A3KMG2, CCDS896.1, ENSG00000183508, FAM46C, FLJ20202, Q5VWP2 | ||
| FLT3 | fms-related tyrosine kinase 3 | 2322 | AML, ALL | 2322, CD135, ENSG00000122025, FLK2, FLT3, P36888, RP11-153M24_3, STK1 | ||
| GOPC | golgi associated PDZ and coiled-coil motif containing | 57120 | glioblastoma | 57120, CAL, CCDS5117.1, ENSG00000047932, FIG, GOPC, GOPC1, Q9HD26, dJ94G16_2 PIST | ||
| IL6ST | interleukin 6 signal transducer (gp130, oncostatin M receptor) | 3572 | hepatocellular ca | 3572, A0N0L4, CCDS3971.1, CD130, CDw130, ENSG00000134352, GP130, GP130-RAPS, IL6R-beta, IL6ST, P40189, Q17RA0 | ||
| IL7R | interleukin 7 receptor | 146661 | ALL, ETP ALL | 3575, CCDS3911.1, CD127, CDW127, ENSG00000168685, IL-7R-alpha, IL7R, P16871, Q05CU8, Q6NSP4, Q6NWM0, Q6NWM1, Q6NWM2, Q6NWM3 | ||
| JAK2 | Janus kinase 2 | 3717 | ALL, AML, MPD, CML | 3717, A8K910, A9QVL8, B4DYV1, CCDS6457, ENSG00000096968, JAK2, JAK2_ENST00000381652, JTK10, O60674, Q506Q0, Q52R86, Q8IXP2 | ||
| KIAA1549 | KIAA1549 | 57670 | pilocytic astrocytoma | 57670, ENSG00000122778, KIAA1549 | ||
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | 3815 | GIST, AML, TGCT, mastocytosis, mucosal melanoma | GIST, epithelioma | Familial gastrointestinal stromal tumour | 3815, C-Kit, CD117, ENSG00000157404, KIT, P10721, SCFR |
| MLL | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) | 4297 | AML, ALL | 4297, ALL-1, CXXC7, ENSG00000118058, HRX, HTRX1, MLL, MLL/GAS7, MLL1A, TRX1 | ||
| NF1 | neurofibromatosis type 1 gene | 4763 | neurofibroma, glioma | neurofibroma, glioma | Neurofibromatosis type 1 | 4763, ENSG00000196712, NF1, NFNS, P21359, Q14931, Q4W6X4, Q7Z3J5, Q9UMU3 |
| NF2 | neurofibromatosis type 2 gene | 4771 | meningioma, acoustic neuroma, renal | meningioma, acoustic neuroma | Neurofibromatosis type 2 | 4771, ACN, BANF, CCDS13861.1, ENSG00000186575, Merlin, NF2, P35240, Q9NRW8, SCH |
| NOTCH1 | Notch homolog 1, translocation-associated (Drosophila) (TAN1) | 4851 | T-ALL | 4851, ENSG00000148400, NOTCH1, P46531, Q59ED8, Q5SXM3, TAN1, hN1 | ||
| PBRM1 | polybromo 1 | 55193 | clear cell renal carcinoma, breast | 55193, BAF180, C9J053, C9J409, C9J9L6, C9JCJ2, C9JPI5, C9JQF1, CCDS2860, MGC156155, MGC156156, PB1, PBRM1, Q6IRX1, Q9NUX9 | ||
| PDGFRA | platelet-derived growth factor, alpha-receptor | 5156 | GIST, idiopathic hypereosinophilic syndrome, paediatric GBM | 5156, CCDS3495.1, CD140A, CD140a, ENSG00000134853, MGC74795, P16234, PDGFR2, PDGFRA, Rhe-PDGFRA | ||
| PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | 5295 | gliobastoma, ovarian, colorectal | 5295, CCDS3993.1, CCDS3995.1, ENSG00000145675, GRB1, P27986, PIK3R1, p85-ALPHA | ||
| SOCS1 | suppressor of cytokine signaling 1? | 8651 | Hodgkin Lymphoma, PMBL | 8651, CCDS10546.1, CIS1, CISH1, Cish1, ENSG00000185338, JAB, O15524, Q4JHT5, SOCS-1, SOCS1, SSI-1, SSI1, TIP3 |
A, amplification; AEL, acute eosinophilic leukemia; AL, acute leukemia; ALCL, anaplastic large-cell lymphoma; ALL, acute lymphocytic leukemia; AML, acute myelogenous leukemia; AML*, acute myelogenous leukemia (primarily treatment associated); APL, acute promyelocytic leukemia; B-ALL, B-cell acute lymphocytic leukaemia; B-CLL, B-cell Lymphocytic leukemia; B-NHL, B-cell Non-Hodgkin Lymphoma; CLL, chronic lymphatic leukemia; CML, chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; CNS, central nervous system; D, large deletion; DFSP, dermatofibrosarcoma protuberans; DLBL, diffuse large B-cell lymphoma; DLCL, diffuse large-cell lymphoma; Dom, dominant; E, epithelial; F, frameshift; GIST, gastrointestinal stromal tumour; JMML, juvenile myelomonocytic leukemia; L, leukaemia/lymphoma; M, mesenchymal; MALT, mucosa-associated lymphoid tissue lymphoma; MDS, myelodysplastic syndrome; Mis, Missense; MLCLS, mediastinal large cell lymphoma with sclerosis; MM, multiple myeloma; MPD, Myeloproliferative disorder; N, nonsense; NHL, non-Hodgkin lymphoma; NK/T, natural killer T cell; NSCLC, non small cell lung cancer; O, other; PMBL, primary mediastinal B-cell lymphoma; pre-B All, pre-B-cell acute lymphoblastic leukaemia; Rec, recesive; S, splice site; T, translocation; T-ALL, T-cell acute lymphoblastic leukemia; T-CLL, T-cell chronic lymphocytic leukaemia; TGCT, testicular germ cell tumour; T-PLL, T cell prolymphocytic leukaemia;
