Cancer genes that have deletion mutations.
This table is a list of the cancer genes that are characterised by large deletions and covers the abnormalities that result in allele loss/loss of heterozygosity at many recessive cancer genes. 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 |
|---|---|---|---|---|---|---|
| APC | adenomatous polyposis of the colon gene | 324 | colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS | colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS | Adenomatous polyposis coli; Turcot syndrome | 324, APC, CCDS4107.1, DP2, DP2_5, DP3, ENSG00000134982, FAP, FPC, GS, P25054 |
| ARID1A | AT rich interactive domain 1A (SWI-like) | 8289 | clear cell ovarian carcinoma, RCC | 8289, ARID1A, B120, BAF250, BAF250a, BM029, C1orf4, ENSG00000117713, P270, RP1-50O24_1, SMARCF1 | ||
| ATM | ataxia telangiectasia mutated | 472 | T-PLL | leukemia, lymphoma, medulloblastoma, glioma | Ataxia-telangiectasia | 472, AT1, ATA, ATC, ATD, ATDC, ATE, ATM, DKFZp781A0353, ENSG00000149311, MGC74674, Q13315, TEL1, TELO1 |
| BRCA1 | familial breast/ovarian cancer gene 1 | 672 | ovarian | breast, ovarian | Hereditary breast/ovarian cancer | 672, BRCA1, BRCAI, BRCC1, ENSG00000012048, IRIS, PSCP, RNF53 |
| BRCA2 | familial breast/ovarian cancer gene 2 | 675 | breast, ovarian, pancreatic | breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) | Hereditary breast/ovarian cancer | 675, BRCA2, BRCC2, ENSG00000139618, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, RP11-298P3_4 |
| CDKN2A | cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene | 1029 | melanoma, multiple other tumour types | melanoma, pancreatic | Familial malignant melanoma | 1029, ARF, CDK4I, CDKN2, CDKN2A, CMM2, ENSG00000147889, INK4, INK4a, MLM, MTS1, P42771, TP16, p14, p14ARF, p16, p16INK4, p16INK4a, p19 |
| CDKN2C | cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) | 1031 | glioma, MM | 1031, CCDS555.1, CDKN2C, ENSG00000123080, INK4C, P42773, Q6ICV4, Q9P1T2, p18, p18-INK4C | ||
| CDKN2a(p14) | cyclin-dependent kinase inhibitor 2A-- p14ARF protein | 1029 | melanoma, multiple other tumour types | melanoma, pancreatic | Familial malignant melanoma | 1029, ARF, CCDS6511, CDK4I, CDKN2, CDKN2a(p14), CMM2, ENSG00000147889, INK4, INK4a, MLM, MTS1, Q5ZEY9, Q8N726, TP16, p14, p14ARF, p16, p16INK4, p16INK4a, p19 |
| FANCA | Fanconi anemia, complementation group A | 2175 | AML, leukemia | Fanconi anaemia A | 2175, ENSG00000187741, FA, FA-H, FA1, FAA, FACA, FAH, FANCA, FANCH, MGC75158 | |
| FANCC | Fanconi anemia, complementation group C | 2176 | AML, leukemia | Fanconi anaemia C | 2176, ENSG00000158169, FA3, FAC, FACC, FANCC, FLJ14675, RP11-80I15_2 | |
| FANCD2 | Fanconi anemia, complementation group D2 | 2177 | AML, leukemia | Fanconi anaemia D2 | 2177, CCDS2595.1, DKFZp762A223, ENSG00000144554, FA-D2, FA4, FACD, FAD, FAD2, FANCD, FANCD2, FLJ23826 | |
| FBXO11 | F-box protein 11 | 80204 | DLBCL | 80204, A1L491, CCDS1837.1, ENSG00000138081, FBX11, FBXO11, FLJ12673, MGC44383, PRMT9, Q53RT5, Q86XK2, UG063H01, VIT1 | ||
| FBXW7 | F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila) | 55294 | colorectal, endometrial, T-ALL | 55294, AGO, CCDS3777.1, CCDS3778.1, CDC4, DKFZp686F23254, ENSG00000109670, FBW7, FBX30, FBXW6, FBXW7, FBXW7_NM_018315_2, FLJ11071, SEL-10, SEL10 | ||
| GPC3 | glypican 3 | 2719 | Wilms tumour | Simpson-Golabi-Behmel syndrome | 2719, AC002420_1, CCDS14638.1, DGSX, ENSG00000147257, GPC3, OCI-5, P51654, Q1MTS4, Q2L880, Q53H15, Q8IYG2, SDYS, SGB, SGBS, SGBS1 | |
| IKZF1 | IKAROS family zinc finger 1 | 10320 | ALL, DLBCL | 10320, ENSG00000185811, Hs_54452, IKAROS, IKZF1, LyF-1, Q13422, ZNFN1A1, hIk-1 | ||
| KDM6A | lysine (K)-specific demethylase 6A, UTX | 7403 | renal, oesophageal SCC, MM | 7403, CCDS14265.1, DKFZp686A03225, ENSG00000147050, KDM6A, MGC141941, O15550, Q52LL9, Q590H7, Q59HG3, Q5JV43, Q68D33, Q6N053, RP13-886N14_3, UTX, bA386N14_2 | ||
| MADH4 | Homolog of Drosophila Mothers Against Decapentaplegic 4 gene | 4089 | colorectal, pancreatic, small intestine | gastrointestinal polyps | Juvenile polyposis | 4089, CCDS11950.1, DPC4, ENSG00000141646, JIP, MADH4, Q13485, Q9BYG6, SMAD4 |
| MAP2K4 | mitogen-activated protein kinase kinase 4 | 6416 | pancreatic, breast, colorectal | 6416, CCDS11162.1, ENSG00000065559, JNKK, JNKK1, MAP2K4, MAPKK4, MEK4, MKK4, P45985, PRKMK4, SEK1, SERK1 | ||
| MEN1 | multiple endocrine neoplasia type 1 gene | 4221 | parathyroid tumors, Pancreatic neuroendocrine tumors | parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid | Multiple Endocrine Neoplasia Type 1 | 4221, CCDS31600.1, ENSG00000133895, MEN1, Q9BUF0, Q9GZQ5, Q9UE24 |
| MLH1 | E.coli MutL homolog gene | 4292 | colorectal, endometrial, ovarian, CNS | colorectal, endometrial, ovarian, CNS | Hereditary non-polyposis colorectal cancer, Turcot syndrome | 4292, CCDS2663.1, COCA2, ENSG00000076242, FCC2, HNPCC, HNPCC2, MGC5172, MLH1, P40692, Q0ZAJ3, Q0ZAJ6, Q53GX1, Q5GJ64, Q64FK0, Q6VBB8, hMLH1 |
| MSH2 | mutS homolog 2 (E. coli) | 4436 | colorectal, endometrial, ovarian | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | 4436, CCDS1834.1, COCA1, ENSG00000095002, FCC1, HNPCC, HNPCC1, MSH2, P43246, Q0ZAI9, Q0ZAJ1, Q53FK0, Q53GS1, Q53RU4, Q6VBB7 |
| 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 |
| PAX5 | paired box gene 5 (B-cell lineage specific activator protein) | 5079 | NHL, ALL, B-ALL | 5079, BSAP, CCDS6607.1, ENSG00000196092, PAX5, Q02548, Q5VVI9 | ||
| PBRM1 | polybromo 1 | 55193 | clear cell renal carcinoma, breast | 55193, BAF180, C9J053, C9J409, C9J9L6, C9JCJ2, C9JPI5, C9JQF1, CCDS2860, MGC156155, MGC156156, PB1, PBRM1, Q6IRX1, Q9NUX9 | ||
| PRDM1 | PR domain containing 1, with ZNF domain | 639 | DLBCL | 639, BLIMP1, CCDS5054, ENSG00000057657, MGC118922, MGC118923, MGC118924, MGC118925, O75626, PRDI-BF1, PRDM1, Q5T4E8, Q658W0, RP1-134E15_1 | ||
| PTEN | phosphatase and tensin homolog gene | 5728 | glioma, prostate, endometrial | harmartoma, glioma, prostate, endometrial | Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome | 5728, BZS, ENSG00000171862, MGC11227, MHAM, MMAC1, P60484, PTEN, PTEN1, TEP1 |
| RB1 | retinoblastoma gene | 5925 | retinoblastoma, sarcoma, breast, small cell lung | retinoblastoma, sarcoma, breast, small cell lung | Familial retinoblastoma | 5925, ENSG00000139687, OSRC, P06400, RB, RB1 |
| SMARCB1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 6598 | malignant rhabdoid | malignant rhabdoid | Rhabdoid predisposition syndrome | 6598, BAF47, CCDS13817.1, ENSG00000099956, INI1, Ini1, Q12824, RDT, SMARCB1, SNF5, SNF5L1, Sfh1p, Snr1, hSNFS |
| STK11 | serine/threonine kinase 11 gene (LKB1) | 6794 | NSCLC, pancreatic | jejunal harmartoma, ovarian, testicular, pancreatic | Peutz-Jeghers syndrome | 6794, ENSG00000118046, LKB1, PJS, Q15831, STK11 |
| SUFU | suppressor of fused homolog (Drosophila) | 51684 | medulloblastoma | medulloblastoma | Medulloblastoma predisposition | 51684, CCDS7537.1, ENSG00000121410, PRO1280, Q5JSM1, Q5JWB5, Q9UMX1, RP11-47A8_1, SUFU, SUFUH, SUFUXL |
| TNFAIP3 | tumor necrosis factor, alpha-induced protein 3 | 7128 | marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma | 7128, A20, CCDS5187.1, ENSG00000118503, MGC104522, MGC138687, MGC138688, OTUD7C, P21580, Q5PY18, Q5VXQ8, Q5VXQ9, Q5VXR0, TNFA1P2, TNFAIP3 | ||
| TSC1 | tuberous sclerosis 1 gene | 7248 | hamartoma, renal cell | Tuberous sclerosis 1 | 7248, ENSG00000165699, KIAA0243, LAM, MGC86987, TSC, TSC1, hamartin | |
| TSC2 | tuberous sclerosis 2 gene | 7249 | hamartoma, renal cell | Tuberous sclerosis 2 | 7249, CCDS10458.1, ENSG00000103197, FLJ43106, LAM, TSC2, TSC4, tuberin | |
| VHL | von Hippel-Lindau syndrome gene | 7428 | renal, hemangioma, pheochromocytoma | renal, hemangioma, pheochromocytoma | von Hippel-Lindau syndrome | 7428, A0PJF6, CCDS2597.1, ENSG00000134086, HRCA1, P40337, RCA1, VHL, VHL1 |
| WT1 | Wilms tumour 1 gene | 7490 | Wilms, desmoplastic small round cell tumor | Wilms | Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor | 7490, ENSG00000184937, GUD, WAGR, WIT-2, WT1, WT33 |
| WTX | family with sequence similarity 123B (FAM123B) | 139285 | Wilms tumour | 139285, CCDS14377.1, ENSG00000184675, FAM123B, FLJ39827, RP11-403E24_2, WTX |
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;
