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Cancer Gene Census

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;


 
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