Germline mutated cancer genes.
This table is a list of the cancer genes that are characterised by germline mutations. The full version of this table can be downloaded here .This is part of Table 1 in Futreal et al.
| Symbol | Name | Entrez GeneID | Chr | Chr Band | Tumour Types (Germline Mutations) | Cancer Syndrome | Other Syndrome/Diseases | Synonyms |
|---|---|---|---|---|---|---|---|---|
| ALK | anaplastic lymphoma kinase (Ki-1) | 238 | 2 | 2p23 | neuroblastoma | Familial neuroblastoma | 238, ALK, CD246, ENSG00000171094, Q9UM73, TFG/ALK | |
| APC | adenomatous polyposis of the colon gene | 324 | 5 | 5q21 | 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 | |
| ATM | ataxia telangiectasia mutated | 472 | 11 | 11q22.3 | leukemia, lymphoma, medulloblastoma, glioma | Ataxia-telangiectasia | 472, AT1, ATA, ATC, ATD, ATDC, ATE, ATM, DKFZp781A0353, ENSG00000149311, MGC74674, Q13315, TEL1, TELO1 | |
| BHD | folliculin, Birt-Hogg-Dube syndrome | 201163 | 17 | 17p11.2 | renal, fibrofolliculomas, trichodiscomas | Birt-Hogg-Dube syndrome | 201163, BHD, ENSG00000154803, FLCL, FLCN, MGC17998, MGC23445 | |
| BLM | Bloom Syndrome | 641 | 15 | 15q26.1 | leukemia, lymphoma, skin squamous cell , other cancers | Bloom Syndrome | 641, BLM, BS, CCDS10363.1, ENSG00000197299, MGC126616, MGC131618, MGC131620, RECQ2, RECQL2, RECQL3 | |
| BMPR1A | bone morphogenetic protein receptor, type IA | 657 | 10 | 10q22.3 | gastrointestinal polyps | Juvenile polyposis | 657, ACVRLK3, ALK3, BMPR1A, CCDS7378.1, CD292, ENSG00000107779, P36894 | |
| BRCA1 | familial breast/ovarian cancer gene 1 | 672 | 17 | 17q21 | breast, ovarian | Hereditary breast/ovarian cancer | 672, BRCA1, BRCAI, BRCC1, ENSG00000012048, IRIS, PSCP, RNF53 | |
| BRCA2 | familial breast/ovarian cancer gene 2 | 675 | 13 | 13q12 | breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) | Hereditary breast/ovarian cancer | 675, BRCA2, BRCC2, ENSG00000139618, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, RP11-298P3_4 | |
| BRIP1 | BRCA1 interacting protein C-terminal helicase 1 | 83990 | 17 | 17q22 | AML, leukemia, breast | Fanconi anaemia J, breast cancer susceptiblity | 83990, BACH1, BRIP1, CCDS11631.1, ENSG00000136492, FANCJ, FLJ90232, MGC126521, MGC126523, OF, Q9BX63 | |
| BUB1B | BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) | 701 | 15 | 15q15 | rhabdomyosarcoma | Mosaic variegated aneuploidy | 701, BUB1B, BUB1beta, BUBR1, Bub1A, CCDS10053.1, ENSG00000156970, MAD3L, O60566, SSK1, hBUBR1 | |
| CDH1 | cadherin 1, type 1, E-cadherin (epithelial) (ECAD) | 999 | 16 | 16q22.1 | gastric | Familial gastric carcinoma | 999, Arc-1, CCDS10869.1, CD324, CDH1, CDHE, ECAD, ENSG00000039068, LCAM, P12830, UVO, uvomorulin | |
| CDK4 | cyclin-dependent kinase 4 | 1019 | 12 | 12q14 | melanoma | Familial malignant melanoma | 1019, CCDS8953.1, CDK4, CMM3, ENSG00000135446, MGC14458, P11802, PSK-J3 | |
| CDKN2A | cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene | 1029 | 9 | 9p21 | melanoma, pancreatic | Familial malignant melanoma | 1029, ARF, CDK4I, CDKN2, CDKN2A, CMM2, ENSG00000147889, INK4, INK4a, MLM, MTS1, P42771, TP16, p14, p14ARF, p16, p16INK4, p16INK4a, p19 | |
| CDKN2a(p14) | cyclin-dependent kinase inhibitor 2A-- p14ARF protein | 1029 | 9 | 9p21 | 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 | |
| CHEK2 | CHK2 checkpoint homolog (S. pombe) | 11200 | 22 | 22q12.1 | breast | familial breast cancer | 11200, CCDS13843.1, CDS1, CHEK2, CHK2, ENSG00000183765, HuCds1, LFS2, O96017, PP1425, RAD53, RP11-436C9_1, bA444G7 | |
| CYLD | familial cylindromatosis gene | 1540 | 16 | 16q12-q13 | cylindroma | Familial cylindromatosis | 1540, CDMT, CYLD, CYLD1, CYLDI, EAC, ENSG00000083799, FLJ20180, FLJ31664, HSPC057, KIAA0849, USPL2 | |
| DDB2 | damage-specific DNA binding protein 2 | 1643 | 11 | 11p12 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (E) | 1643, CCDS7927.1, DDB2, ENSG00000134574, FLJ34321, Q92466 | |
| DICER1 | dicer 1, ribonuclease type III | 23405 | 14 | 14q32.13 | pleuropulmonary blastoma | Familial Pleuropulmonary Blastoma | 23405, CCDS9931.1, DICER1, Dicer, ENSG00000100697, HERNA, K12H4_8-LIKE, KIAA0928, Q5D0K4, Q5D0K5, Q9UFF3, Q9UPY3 | |
| EGFR | epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) | 1956 | 7 | 7p12.3-p12.1 | NSCLC | Familial lung cancer | 1956, CCDS5514.1, EGFR, ENSG00000146648, ERBB, ERBB1, P00533, mENA | |
| ERCC2 | excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) | 2068 | 19 | 19q13.2-q13.3 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (D) | 2068, CCDS33049.1, COFS2, EM9, ENSG00000104884, ERCC2, MAG, MGC102762, MGC126218, MGC126219, P18074, Q2TB78, Q7KZU6, TTD, XPD | |
| ERCC3 | excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) | 2071 | 2 | 2q21 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (B) | 2071, BTF2, CCDS2144.1, ENSG00000163161, ERCC3, GTF2H, P19447, Q53HW5, Q53QM0, RAD25, TFIIH, XPB | |
| ERCC4 | excision repair cross-complementing rodent repair deficiency, complementation group 4 | 2072 | 16 | 16p13.3-p13.13 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (F) | 2072, A0PJA9, CCDS32390.1, ENSG00000175595, ERCC4, Q92889, RAD1, XPF | |
| ERCC5 | excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) | 2073 | 13 | 13q33 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (G) | 2073, COFS3, ENSG00000134899, ERCC5, ERCM2, RP11-484I6_5, UVDR, XPG, XPGC | |
| EXT1 | multiple exostoses type 1 gene | 2131 | 8 | 8q24.11-q24.13 | exostoses, osteosarcoma | Multiple Exostoses Type 1 | 2131, CCDS6324.1, ENSG00000182197, EXT, EXT1, Q16394, ttv | |
| EXT2 | multiple exostoses type 2 gene | 2132 | 11 | 11p12-p11 | exostoses, osteosarcoma | Multiple Exostoses Type 2 | 2132, CCDS7908.1, ENSG00000151348, EXT2, Q6NUL1, Q93063, SOTV | |
| FANCA | Fanconi anemia, complementation group A | 2175 | 16 | 16q24.3 | AML, leukemia | Fanconi anaemia A | 2175, ENSG00000187741, FA, FA-H, FA1, FAA, FACA, FAH, FANCA, FANCH, MGC75158 | |
| FANCC | Fanconi anemia, complementation group C | 2176 | 9 | 9q22.3 | AML, leukemia | Fanconi anaemia C | 2176, ENSG00000158169, FA3, FAC, FACC, FANCC, FLJ14675, RP11-80I15_2 | |
| FANCD2 | Fanconi anemia, complementation group D2 | 2177 | 3 | 3p26 | AML, leukemia | Fanconi anaemia D2 | 2177, CCDS2595.1, DKFZp762A223, ENSG00000144554, FA-D2, FA4, FACD, FAD, FAD2, FANCD, FANCD2, FLJ23826 | |
| FANCE | Fanconi anemia, complementation group E | 2178 | 6 | 6p21-p22 | AML, leukemia | Fanconi anaemia E | 2178, CCDS4805.1, ENSG00000112039, FACE, FAE, FANCE | |
| FANCF | Fanconi anemia, complementation group F | 2188 | 11 | 11p15 | AML, leukemia | Fanconi anaemia F | 2188, CCDS7857.1, ENSG00000183161, FAF, FANCF, MGC126856, Q53FK7, Q6MZN0, Q9NPI8 | |
| FANCG | Fanconi anemia, complementation group G | 2189 | 9 | 9p13 | AML, leukemia | Fanconi anaemia G | 2189, CCDS6574.1, ENSG00000221829, FAG, FANCG, O15287, Q53XM5, XRCC9 | |
| FH | fumarate hydratase | 2271 | 1 | 1q42.1 | lieomyomatosis, renal | hereditary leiomyomatosis and renal cell cancer | 2271, CCDS1617.1, ENSG00000091483, FH, HLRCC, LRCC, MCL, MCUL1, P07954, Q5SY06 | |
| GPC3 | glypican 3 | 2719 | X | Xq26.1 | 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 | |
| HRAS | v-Ha-ras Harvey rat sarcoma viral oncogene homolog | 3265 | 11 | 11p15.5 | rhadomyosarcoma, ganglioneuroblastoma, bladder | Costello syndrome | 3265, CCDS7698.1, ENSG00000174775, HRAS, HRAS1, K-ras, N-ras, P01112, RASH1, c-bas/has | |
| HRPT2 | hyperparathyroidism 2 | 3279 | 1 | 1q21-q31 | parathyroid adenoma, mulitiple ossifying jaw fibroma | Hyperparathyroidism-jaw tumor syndrome | 79577, C1orf28, CCDS1382.1, CDC73, ENSG00000134371, FLJ23316, HPT-JT, HRPT2, Q6P1J9, Q6PHR8 | |
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | 3815 | 4 | 4q12 | GIST, epithelioma | Familial gastrointestinal stromal tumour | Piebald trait | 3815, C-Kit, CD117, ENSG00000157404, KIT, P10721, SCFR |
| LMO1 | LIM domain only 1 (rhombotin 1) (RBTN1) | 4004 | 11 | 11p15 | neuroblastoma | 4004, ENSG00000166407, LMO1, P25800, Q8IXR0, RBTN1, RHOM1, TTG1 | ||
| MADH4 | Homolog of Drosophila Mothers Against Decapentaplegic 4 gene | 4089 | 18 | 18q21.1 | gastrointestinal polyps | Juvenile polyposis | 4089, CCDS11950.1, DPC4, ENSG00000141646, JIP, MADH4, Q13485, Q9BYG6, SMAD4 | |
| MEN1 | multiple endocrine neoplasia type 1 gene | 4221 | 11 | 11q13 | 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 | 3 | 3p21.3 | 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 | |
| MPL | myeloproliferative leukemia virus oncogene, thrombopoietin receptor | 4352 | 1 | p34 | MPD | Familial essential thrombocythemia | congenital amegakaryocytic thrombocytopenia | 4352, C-MPL, CCDS483.1, CD110, ENSG00000117400, MPL, MPLV, P40238, Q308M1, Q5JUZ0, RP1-92O14_1, TPOR |
| MSH2 | mutS homolog 2 (E. coli) | 4436 | 2 | 2p22-p21 | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | 4436, CCDS1834.1, COCA1, ENSG00000095002, FCC1, HNPCC, HNPCC1, MSH2, P43246, Q0ZAI9, Q0ZAJ1, Q53FK0, Q53GS1, Q53RU4, Q6VBB7 | |
| MSH6 | mutS homolog 6 (E. coli) | 2956 | 2 | 2p16 | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | 2956, CCDS1836.1, ENSG00000116062, GTBP, HNPCC5, HSAP, MSH6, P52701, Q1L838, Q3SWU9 | |
| MUTYH | mutY homolog (E. coli) | 4595 | 1 | 1p34.3-1p32.1 | colorectal | Adenomatous polyposis coli | 4595, CCDS520.1, ENSG00000132781, MGC4416, MUTYH, MYH, MYHbeta, hMYH | |
| NBS1 | Nijmegen breakage syndrome 1 (nibrin) | 4683 | 8 | 8q21 | NHL, glioma, medulloblastoma, rhabdomyosarcoma | Nijmegen breakage syndrome | 4683, AT-V1, AT-V2, ATV, CCDS6249.1, ENSG00000104320, FLJ10155, MGC87362, NBN, NBS, NBS1 | |
| NF1 | neurofibromatosis type 1 gene | 4763 | 17 | 17q12 | neurofibroma, glioma | Neurofibromatosis type 1 | 4763, ENSG00000196712, NF1, NFNS, P21359, Q14931, Q4W6X4, Q7Z3J5, Q9UMU3 | |
| NF2 | neurofibromatosis type 2 gene | 4771 | 22 | 22q12.2 | meningioma, acoustic neuroma | Neurofibromatosis type 2 | 4771, ACN, BANF, CCDS13861.1, ENSG00000186575, Merlin, NF2, P35240, Q9NRW8, SCH | |
| PALB2 | partner and localizer of BRCA2 | 79728 | 16 | 16p12.1 | Wilms tumor, medulloblastoma, AML ,breast | Fanconi anaemia N, breast cancer susceptibility | 79728, ENSG00000083093, PALB2 | |
| PHOX2B | paired-like homeobox 2b | 8929 | 4 | 4p12 | neuroblastoma | familial neuroblastoma | congenital central hypoventilation syndrome | 8929, PHOX2B |
| PMS1 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | 5378 | 2 | 2q31-q33 | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | 5378, CCDS2302.1, DKFZp781M0253, ENSG00000064933, HNPCC3, PMS1, PMSL1, hPMS1 | |
| PMS2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | 5395 | 7 | 7p22 | colorectal, endometrial, ovarian, medulloblastoma, glioma | Hereditary non-polyposis colorectal cancer, Turcot syndrome | 5395, CCDS5343.1, ENSG00000122512, HNPCC4, H_DJ0042M02_9, PMS2, PMS2CL, PMSL2 | |
| PRF1 | perforin 1 (pore forming protein) | 5551 | 10 | 10q22 | various leukaemia, lymphoma | Type 2 familial hemophagocytic lymphohistiocytosis | 5551, CCDS7305.1, ENSG00000180644, FLH2, HPLH2, MGC65093, P1, P14222, PFP, PRF1, Q59F57 | |
| PRKAR1A | protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) | 5573 | 17 | 17q23-q24 | myxoma, endocrine, papillary thyroid | Carney complex | 5573, CAR, CCDS11678.1, CNC, CNC1, DKFZp779L0468, ENSG00000108946, MGC17251, P10644, PKR1, PPNAD1, PRKAR1, PRKAR1A, Q68DQ4, Q96P62, TSE1 | |
| PTCH | Homolog of Drosophila Patched gene | 5727 | 9 | 9q22.3 | skin basal cell, medulloblastoma | Nevoid Basal Cell Carcinoma Syndrome | 5727, BCNS, CCDS6714.1, ENSG00000185920, FLJ26746, FLJ42602, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH1, Q13635, Q59FG5, Q5R1U7, Q5R1V0, Q5VZC2, Q6TKP8, Q6TKP9, Q6TKQ0, Q86XG7, RP11-435O5_3 | |
| PTEN | phosphatase and tensin homolog gene | 5728 | 10 | 10q23.3 | harmartoma, glioma, prostate, endometrial | Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome | 5728, BZS, ENSG00000171862, MGC11227, MHAM, MMAC1, P60484, PTEN, PTEN1, TEP1 | |
| RB1 | retinoblastoma gene | 5925 | 13 | 13q14 | retinoblastoma, sarcoma, breast, small cell lung | Familial retinoblastoma | 5925, ENSG00000139687, OSRC, P06400, RB, RB1 | |
| RECQL4 | RecQ protein-like 4 | 9401 | 8 | 8q24.3 | osteosarcoma, skin basal and sqamous cell | Rothmund-Thompson Syndrome | 9401, ENSG00000160957, RECQ4, RECQL4, RTS, RecQ4 | |
| RET | ret proto-oncogene | 5979 | 10 | 10q11.2 | medullary thyroid, papillary thyroid, pheochromocytoma | Multiple endocrine neoplasia 2A/2B | Hirschsprung disease | 5979, CCDS7200.1, CDHF12, ENSG00000165731, HSCR1, MEN2A, MEN2B, MTC1, P07949, PTC, RET, RET-ELE1, RET51 |
| SBDS | Shwachman-Bodian-Diamond syndrome protein | 51119 | 7 | 7q11 | AML, MDS | Schwachman-Diamond syndrome | 51119, CCDS5537.1, CGI-97, ENSG00000126524, FLJ10917, Q9Y3A5, SBDS, SDS, SWDS | |
| SDH5 | chromosome 11 open reading frame 79 | 54949 | 11 | 11q12.2 | paraganglioma | Familial paraganglioma | 54949, C11orf79, CCDS8007.1, ENSG00000167985, FLJ20487, Q9NX18, SDH5, SDHAF2 | |
| SDHB | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | 6390 | 1 | 1p36.1-p35 | paraganglioma, pheochromocytoma | Familial paraganglioma | 6390, CCDS176.1, ENSG00000117118, IP, PGL4, SDH, SDH1, SDHB, SDHIP | |
| SDHC | succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa | 6391 | 1 | 1q21 | paraganglioma, pheochromocytoma | Familial paraganglioma | 6391, CYB560, CYBL, ENSG00000143252, PGL3, QPS1, SDH3, SDHC | |
| SDHD | succinate dehydrogenase complex, subunit D, integral membrane protein | 6392 | 11 | 11q23 | paraganglioma, pheochromocytoma | Familial paraganglioma | 6392, CBT1, CCDS31678.1, ENSG00000204370, O14521, PGL, PGL1, Q53XW5, SDH4, SDHD | |
| SMARCB1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 6598 | 22 | 22q11 | 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 | 19 | 19p13.3 | jejunal harmartoma, ovarian, testicular, pancreatic | Peutz-Jeghers syndrome | 6794, ENSG00000118046, LKB1, PJS, Q15831, STK11 | |
| SUFU | suppressor of fused homolog (Drosophila) | 51684 | 10 | 10q24.32 | medulloblastoma | Medulloblastoma predisposition | 51684, CCDS7537.1, ENSG00000121410, PRO1280, Q5JSM1, Q5JWB5, Q9UMX1, RP11-47A8_1, SUFU, SUFUH, SUFUXL | |
| TCF1 | transcription factor 1, hepatic (HNF1) | 6927 | 12 | 12q24.2 | hepatic adenoma, hepatocellular ca | Familial Hepatic Adenoma | Maturity-onset diabetes of the young, TYPE III | 6927, CCDS9209.1, ENSG00000135100, HNF1, HNF1A, LFB1, MODY3, P20823, TCF1 |
| TP53 | tumor protein p53 | 7157 | 17 | 17p13 | breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types | Li-Fraumeni syndrome | 7157, CCDS11118.1, ENSG00000141510, LFS1, P04637, P53, TP53, TRP53, p53 | |
| TSC1 | tuberous sclerosis 1 gene | 7248 | 9 | 9q34 | hamartoma, renal cell | Tuberous sclerosis 1 | 7248, ENSG00000165699, KIAA0243, LAM, MGC86987, TSC, TSC1, hamartin | |
| TSC2 | tuberous sclerosis 2 gene | 7249 | 16 | 16p13.3 | hamartoma, renal cell | Tuberous sclerosis 2 | 7249, CCDS10458.1, ENSG00000103197, FLJ43106, LAM, TSC2, TSC4, tuberin | |
| TSHR | thyroid stimulating hormone receptor | 7253 | 14 | 14q31 | thyroid adenoma | Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism | 7253, CCDS9872.1, ENSG00000165409, LGR3, MGC75129, TSHR, hTSHR-I | |
| VHL | von Hippel-Lindau syndrome gene | 7428 | 3 | 3p25 | renal, hemangioma, pheochromocytoma | von Hippel-Lindau syndrome | 7428, A0PJF6, CCDS2597.1, ENSG00000134086, HRCA1, P40337, RCA1, VHL, VHL1 | |
| WRN | Werner syndrome (RECQL2) | 7486 | 8 | 8p12-p11.2 | osteosarcoma, meningioma, others | Werner Syndrome | 7486, A1KYY9, CCDS6082.1, ENSG00000165392, Q14191, Q59F09, RECQ3, RECQL2, WRN | |
| WT1 | Wilms tumour 1 gene | 7490 | 11 | 11p13 | Wilms | Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor | 7490, ENSG00000184937, GUD, WAGR, WIT-2, WT1, WT33 | |
| XPA | xeroderma pigmentosum, complementation group A | 7507 | 9 | 9q22.3 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (A) | 7507, CCDS6729.1, ENSG00000136936, P23025, Q5T1U9, Q6LD02, XP1, XPA, XPAC | |
| XPC | xeroderma pigmentosum, complementation group C | 7508 | 3 | 3p25 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (C) | 7508, ENSG00000154767, XP3, XPC, XPCC |
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;
