ΜΟΡΙΑΚΟΣ ΓΕΝΕΤΙΚΟΣ ΕΛΕΓΧΟΣ >500 ΓΟΝΙΔΙΩΝ ΣΧΕΤΙΖΟΜΕΝΑ ΜΕ ΚΑΡΚΙΝΟ ΜΕ NEXT GENERATION SEQUENCING Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 1 2 3 4 5 9q34.1 1q24-q25 2q36 14 15 16 ABL1 ABL2 ACSL3 ADAMTSL3 AF15Q14 AF1Q AF3p21 AF5q31 AGC1 AIM1 AKAP6 AKAP9 AKT1 AKT2 ALK ALO17 19q13.1-q13.2 2p23 17q25.3 17 APC 5q21 18 19 20 21 22 23 24 25 AR ARAF ARHGEF12 ARHH ARID1A ARNT ASPSCR1 ASXL1 26 27 6 7 8 9 10 11 12 13 Germline Mutation (Κληρονομικός) Τύπος Καρκίνοσ (Somatic Mutations) Τύπος Καρκίνοσ (Germline Mutations) Σύνδρομο - Νόσος 29/3/2012 Κληρονομικότητα CML, ALL, T-ALL AML prostate Dom Dom Dom 15q14 AML Dom 1q21 3p21 5q31 ALL ALL ALL Dom Dom Dom papillary thyroid breast, colorectal, ovarian, NSCLC Dom Dom YES ovarian, pancreatic ALCL, NSCLC, Neuroblastoma ALCL neuroblastoma Familial neuroblastoma Dom Dom Dom YES colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS Adenomatous polyposis coli; Turcot syndrome Dom 7q21-q22 14q32.32 11q23.3 AML Dom 4p13 1p35.3 1q21 17q25 20q11.1 NHL clear cell ovarian carcinoma AML alveolar soft part sarcoma MDS, CMML Dom ATF1 12q13 malignant melanoma of soft parts , angiomatoid fibrous histiocytoma Dom 2q35 ALCL Dom 44 45 46 ATIC ATM AXIN2 BAI2 BAP1 BARD1 BCL10 BCL11A BCL11B BCL2 BCL3 BCL6 BCL7A BCL9 BCR BHD BIRC3 BLIMP1 BLM BMPR1A 47 BRAF 7q34 48 49 50 BRCA1 BRCA2 BRD3 BRD4 17q21 13q12 9q34 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 51 11q22.3 YES 3p21.31-p21.2 1p22 2p13 14q32.1 18q21.3 19q13 17q22 12q24.1 1q21 22q11.21 17p11.2 11q22-q23 15q26.1 10q22.3 19p13.1 T-PLL Rec Dom Dom Rec leukemia, lymphoma, medulloblastoma, glioma Ataxia-telangiectasia uveal melanoma, breast, NSCLC Rec MALT B-CLL T-ALL Dom Dom Dom NHL, CLL CLL CLL BNHL B-ALL CML, ALL, AML Dom Dom Dom Dom Dom Dom Rec? Dom YES renal, fibrofolliculomas, trichodiscomas Birt-Hogg-Dube syndrome leukemia, lymphoma, skin squamous cell , other cancers gastrointestinal polyps Bloom Syndrome Juvenile polyposis MALT YES YES melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma YES YES Rec ovarian breast, ovarian, pancreatic lethal midline carcinoma of young people Rec Rec Dom breast, ovarian breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) lethal midline carcinoma of young people Hereditary breast/ovarian cancer Hereditary breast/ovarian cancer Rec Rec Dom Dom Σελίδα 1 Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 52 53 54 55 56 57 58 59 17q22 12q22 15q15 15q21.1 104 BRIP1 BTG1 BUB1B C15orf21 CACNA1B CANT1 CARD11 CARS CBFA2T1 CBFA2T3 CBFB CBL CBLB CBLC CCND1 CCND2 CCND3 CD74 CD79A CD79B CDC42BPA CDH1 CDH11 CDK4 CDK6 CDKN2A CDKN2C CDX2 CEBPA CELSR1 CEP1 CHCHD7 CHEK2 CHN1 CIC CLTC CLTCL1 CMKOR1 COL1A1 COPEB COX6C CPAMD8 CREB1 CREB3L2 CREBBP CRKRS CRLF2 CRTC3 CSF1R CSF2RB CSF3R CSMD1 CSMD3 105 CTNNB1 3p22-p21.3 106 CXXC6 CYLD 16q12-q13 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 107 Germline Mutation (Κληρονομικός) Τύπος Καρκίνοσ (Somatic Mutations) Σύνδρομο - Νόσος AML, leukemia, breast Fanconi anaemia J, breast cancer susceptiblity rhabdomyosarcoma Mosaic variegated aneuploidy Κληρονομικότητα prostate Rec Dom Rec Dom 17q25 7p22 11p15.5 prostate DLBL ALCL Dom Dom Dom 8q22 16q24 16q22 11q23.3 3q13.11 19q13.2 11q13 12p13 AML AML AML AML, JMML, MDS AML AML CLL, B-ALL, breast NHL,CLL 6p21 5q32 19q13.2 17q23 MM NSCLC DLBCL DLBCL 16q22.1 16q22.1 12q14 YES Τύπος Καρκίνοσ (Germline Mutations) BCLL YES YES lobular breast, gastric aneurysmal bone cysts YES Dom Dom Dom Dom, Rec Rec Rec Dom Dom Dom Dom Dom Dom gastric Familial gastric carcinoma melanoma Familial malignant melanoma Rec Dom Dom 7q21-q22 ALL Dom 1p32 13q12.3 19q13.1 glioma, MM AML AML, MDS Rec Dom Dom MPD, NHL salivary adenoma Dom Dom 9q33 8q11.2 22q12.1 2q31-q32.1 19q13.2 17q11-qter 22q11.21 2q37.3 17q21.31-q22 YES extraskeletal myxoid chondrosarcoma soft tissue sarcoma ALCL, renal ALCL lipoma dermatofibrosarcoma protuberans, aneurysmal bone cyst Rec Dom Dom Dom Dom Dom Dom prostate, glioma uterine leiomyoma Rec Dom clear cell sarcoma, angiomatoid fibrous histiocytoma fibromyxoid sarcoma AL, AML Dom Dom Dom Xp22.3; Yp11.3 B-ALL, Downs associated ALL Dom 15q26.1 salivary gland mucoepidermoid Dom colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma Dom 10p15 8q22-q23 2q34 7q34 16p13.3 YES breast cylindroma cylindroma Σελίδα 2 familial breast cancer Familial cylindromatosis Rec Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 108 109 110 111 112 113 114 115 10q21 11p12 12q13.1-q13.2 11q22-q23 17q21 11q23.3 6p23 14q32.13 147 D10S170 DDB2 DDIT3 DDX10 DDX5 DDX6 DEK DICER1 DIRAS3 DNMT3A DOCK3 DUX4 EGFR EIF4A2 ELF4 ELK4 ELKS ELL ELN EML4 ENG EP300 EPHA2 EPHA3 EPHA5 EPHA7 EPHB1 EPHB6 EPS15 ERBB2 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERG ETV1 ETV4 ETV5 148 ETV6 12p13 149 EVI1 3q26 150 EWSR1 22q12 151 152 153 EXT1 EXT2 EZH2 FACL6 FANCA FANCC FANCD2 FANCE FANCF FANCG FBXW7 FCGR2B 8q24.11-q24.13 11p12-p11 7q35-q36 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 154 155 156 157 158 159 160 161 162 Germline Mutation (Κληρονομικός) Τύπος Καρκίνοσ (Germline Mutations) Σύνδρομο - Νόσος papillary thyroid, CML YES skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (E) pleuropulmonary blastoma Familial Pleuropulmonary Blastoma liposarcoma AML* prostate B-NHL AML YES 2p23 4q35 7p12.3-p12.1 3q27.3 Xq26 1q32 Τύπος Καρκίνοσ (Somatic Mutations) YES Κληρονομικότητα Dom Rec Dom Dom Dom Dom Dom Rec AML Rec soft tissue sarcoma glioma, NSCLC NHL AML prostate Dom Dom Dom Dom Dom NSCLC Familial lung cancer 12p13.3 19p13.1 7q11.23 2p21 papillary thyroid AL B-ALL NSCLC Dom Dom Dom Dom 22q13 colorectal, breast, pancreatic, AML Rec ALL breast, ovarian, other tumour types, NSCLC, gastric Dom Dom 1p32 17q21.1 19q13.2-q13.3 YES skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (D) Rec 2q21 16p13.3-p13.13 13q33 YES YES YES skin basal cell, skin squamous cell, melanoma skin basal cell, skin squamous cell, melanoma skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (B) Xeroderma pigmentosum (F) Xeroderma pigmentosum (G) Rec Rec Rec 21q22.3 7p22 17q21 3q28 5q31 16q24.3 9q22.3 3p26 6p21-p22 11p15 9p13 4q31.3 1q23 Ewing sarcoma, prostate, AML Ewing sarcoma, prostate Ewing sarcoma, Prostate carcinoma Dom Dom Dom Prostate congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL AML, CML Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma Dom YES YES Dom Dom Dom exostoses, osteosarcoma exostoses, osteosarcoma Multiple Exostoses Type 1 Multiple Exostoses Type 2 AML, leukemia AML, leukemia AML, leukemia AML, leukemia AML, leukemia AML, leukemia Fanconi anaemia A Fanconi anaemia C Fanconi anaemia D2 Fanconi anaemia E Fanconi anaemia F Fanconi anaemia G DLBCL AML, AEL Rec Rec Rec? colorectal, endometrial, T-ALL Dom Rec Rec Rec Rec Rec Rec Rec ALL Dom YES YES YES YES YES YES Σελίδα 3 Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 163 164 165 166 167 168 169 170 2q36 8p11.2-p11.1 6q27 10q26 4p16.3 179 180 181 182 FEV FGFR1 FGFR1OP FGFR2 FGFR3 FGFR4 FIP1L1 FLI1 FLNA FLNC FLT3 FLT4 FNBP1 FOXL2 FOXO1A FOXO3A FOXP1 FRAP1 FRAS1 FSTL3 183 FUS 16p11.2 184 185 210 211 FVT1 GAB2 GAS7 GATA1 GATA2 GATA3 GLI3 GMPS GNAQ GNAS GOLGA5 GOPC GPC3 GPHN GRAF GRM1 GRM8 H2AX HCMOGT-1 HEAB HECW1 HEI10 HERC1 HERPUD1 HIP1 HIST1H4I HLF HLXB9 212 213 214 215 216 171 172 173 174 175 176 177 178 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 217 Germline Mutation (Κληρονομικός) Τύπος Καρκίνοσ (Somatic Mutations) Τύπος Καρκίνοσ (Germline Mutations) Σύνδρομο - Νόσος Κληρονομικότητα Ewing sarcoma MPD, NHL MPD, NHL gastric. NSCLC, endometrial bladder, MM, T-cell lymphoma Dom Dom Dom Dom Dom 4q12 11q24 idiopathic hypereosinophilic syndrome Ewing sarcoma Dom Dom 13q12 AML, ALL Dom AML granulosa-cell tumour of the ovary alveolar rhabdomyosarcomas AL Dom Dom Dom Dom 3p14.1 ALL Dom 19p13 Dom 18q21.3 B-CLL liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma B-NHL 17p Xp11.23 3q21.3 10p15 AML* megakaryoblastic leukemia of Downs Syndrome AML(CML blast transformation) breast Dom Dom Dom Rec 3q24 9q21 20q13.2 AML uveal melanoma pituitary adenoma Dom Dom Dom 9q23 3q23 13q14.1 6q21 14q 6q21 Xq26.1 14q24 5q31 Dom Dom papillary thyroid glioblastoma YES Wilms tumour AL AML, MDS Simpson-Golabi-Behmel syndrome Dom Dom Rec/X Dom Dom 17p11.2 11q12 JMML AML Dom Dom 14q11.1 uterine leiomyoma Dom prostate CMML NHL Dom Dom Dom 17q22 7q36 ALL AML Dom Dom HMGA1 6p21 microfollicular thyroid adenoma, various benign mesenchymal tumors Dom HMGA2 HNRNPA2B1 HOOK3 HOXA11 HOXA13 12q15 7p15 8p11.21 7p15-p14.2 lipoma prostate papillary thyroid CML Dom Dom Dom Dom 7p15-p14.2 AML Dom 16q12.2-q13 7q11.23 6p21.3 Σελίδα 4 Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 218 219 220 221 222 223 224 225 HOXA9 HOXC11 HOXC13 HOXD11 HOXD13 HRAS HRPT2 HSPCA HSPCB IDH1 IDH2 IKZF1 IL2 IL21R IL6ST INHBA INSRR IRF4 IRTA1 ITK ITPR3 JAK1 JAK2 JAK3 JAZF1 JUN KDM5A KDM5C KDM6A KDR KEAP1 KIAA0934 KIAA1549 KIAA1804 KIT KLK2 KRAS KTN1 LAF4 LAMA1 LASP1 LCK LCP1 LCX LHFP LIFR LMO1 LMO2 LMTK2 LNK LPHN3 LPP LRP1B LTK LYL1 MADH4 MAF 7p15-p14.2 12q13.3 12q13.3 2q31-q32 2q31-q32 11p15.5 1q21-q31 14q32.31 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 Germline Mutation (Κληρονομικός) YES YES Τύπος Καρκίνοσ (Somatic Mutations) AML* AML AML AML AML* infrequent sarcomas, rare other types parathyroid adenoma NHL Τύπος Καρκίνοσ (Germline Mutations) rhadomyosarcoma, ganglioneuroblastoma, bladder parathyroid adenoma, mulitiple ossifying jaw fibroma Σύνδρομο - Νόσος Costello syndrome Hyperparathyroidism-jaw tumor syndrome Κληρονομικότητα Dom Dom Dom Dom Dom Dom Rec Dom 6p12 2q33.3 15q26.1 7p12.2 4q26-q27 16p11 5q11 NHL gliobastoma GBM ALL intestinal T-cell lymphoma NHL hepatocellular ca Dom Dom Dom Rec? Dom Dom Dom 6p25-p23 1q21 5q31-q32 MM B-NHL peripheral T-cell lymphoma Dom Dom Dom 1p32.3-p31.3 9p24 19p13.1 ALL ALL, AML, MPD, CML acute megakaryocytic leukemia, Dom Dom Dom 7p15.2-p15.1 1p32-p31 endometrial stromal tumours sarcoma Dom Dom 12p11 Xp11.22-p11.21 Xp11.2 4q11-q12 AML clear cell renal carcinoma renal, oesophageal SCC, MM NSCLC, angiosarcoma Dom Rec Rec Dom pilocytic astrocytoma Dom 7q34 4q12 19q13.41 12p12.1 14q22.1 2q11.2-q12 YES 17q11-q21.3 1p35-p34.3 13q14.1-q14.3 10q21 13q12 5p13-p12 11p15 GIST, AML, TGCT, mastocytosis, mucosal melanoma prostate pancreatic, colorectal, lung, thyroid, AML, others papillary thryoid ALL, T-ALL GIST, epithelioma Familial gastrointestinal stromal tumour Dom Dom Dom Dom Dom AML T-ALL NHL AML lipoma salivary adenoma T-ALL Dom Dom Dom Dom Dom Dom Dom 11p13 T-ALL Dom 3q28 lipoma, leukemia Dom T-ALL Dom 19p13.2-p13.1 18q21.1 16q22-q23 YES colorectal, pancreatic, small intestine gastrointestinal polyps MM Juvenile polyposis Rec Dom Σελίδα 5 Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 275 276 277 278 279 280 281 282 20q11.2-q13.1 18q21 11q22-q23 17p11.2 283 284 285 286 287 MAFB MALT1 MAML2 MAP2K4 MAP3K1 MDM2 MDM4 MDS1 MDS2 MECT1 MEF2C MEK1 MEK2 288 MEN1 11q13 289 290 291 292 293 294 MERTK MET MHC2TA MITF MKL1 MLF1 7q31 16p13 3p14.1 22q13 3q25.1 295 MLH1 3p21.3 296 MLH3 MLL MLL3 MLLT1 MLLT10 MLLT2 MLLT3 MLLT4 MLLT6 MLLT7 MN1 MPL MSF MSH2 MSH6 MSI2 MSN MTCP1 MUC1 MUTYH MYB MYC MYCL1 MYCN MYH11 MYH9 MYO3B MYST4 NACA NAV3 NBN NBS1 NCOA1 NCOA2 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 Germline Mutation (Κληρονομικός) Τύπος Καρκίνοσ (Somatic Mutations) Τύπος Καρκίνοσ (Germline Mutations) Σύνδρομο - Νόσος Κληρονομικότητα MM MALT salivary gland mucoepidermoid pancreatic, breast, colorectal Dom Dom Dom Rec 12q15 1q32 3q26 sarcoma, glioma, colorectal, other GBM, bladder, retinoblastoma MDS, AML Dom Dom Dom 1p36 19p13 MDS salivary gland mucoepidermoid Dom Dom YES YES 11q23 19p13.3 10p12 4q21 9p22 6q27 17q21 Xq13.1 22q13 p34 17q25 2p22-p21 2p16 17q23.2 Xq11.2-q12 Xq28 1q21 1p34.3-1p32.1 6q22-23 8q24.12-q24.13 1p34.3 2p24.1 16p13.13-p13.12 YES YES YES parathyroid tumors parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid Multiple Endocrine Neoplasia Type 1 Rec papillary renal, head-neck squamous cell NHL melanoma acute megakaryocytic leukemia AML papillary renal Familial Papillary Renal Cancer Dom Dom Dom Dom Dom colorectal, endometrial, ovarian, CNS colorectal, endometrial, ovarian, CNS Hereditary non-polyposis colorectal cancer, Turcot syndrome Rec AML, ALL Dom AL AL AL ALL AL AL Dom Dom Dom Dom Dom Dom AL AML, meningioma MPD AML* colorectal, endometrial, ovarian colorectal CML ALCL Dom Dom Dom Dom Rec Rec Dom Dom MPD Familial essential thrombocythemia colorectal, endometrial, ovarian colorectal, endometrial, ovarian Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer adenoid cystic carcinoma Burkitt lymphoma, amplified in other cancers, B-CLL small cell lung neuroblastoma AML Dom Dom Rec Dom Dom Dom Dom Dom 22q13.1 ALCL Dom 10q22 12q23-q24.1 AML NHL Dom Dom 8q21 2p23 8q13.1 T cell prolymphocytic leukemia B-NHL YES colorectal YES NHL, glioma, medulloblastoma, rhabdomyosarcoma Adenomatous polyposis coli alveolar rhadomyosarcoma Rec Dom AML Dom Σελίδα 6 Nijmegen breakage syndrome Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 330 331 332 333 334 335 336 337 NCOA4 NEB NF1 NF2 NFE2L2 NFIB NFKB2 NIN NKX2-1 NLRP3 NONO NOTCH1 NOTCH2 NOTCH3 NOTCH4 NPM1 NR4A3 NRAS NRG3 NSD1 NTRK1 NTRK2 NTRK3 NUMA1 NUP214 NUP98 Nut OBSCN OLIG2 OMD P2RY8 PAFAH1B2 PAK3 PALB2 PAX5 PAX7 PAX8 PBRM1 PBX1 PCM1 PCSK7 PDE4DIP PDGFB PDGFRA PDGFRB PER1 PHF6 PHOX2B PICALM PICH PIK3C2G PIK3C3 PIK3CA PIK3CG PIK3R1 PIM1 PKHD1 10q11.2 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 17q12 22q12.2 2q31 9p24.1 10q24 14q24 Germline Mutation (Κληρονομικός) Τύπος Καρκίνοσ (Somatic Mutations) Τύπος Καρκίνοσ (Germline Mutations) Σύνδρομο - Νόσος papillary thyroid YES YES neurofibroma, glioma meningioma, acoustic neuroma, renal NSCLC, HNSCC adenoid cystic carcinoma, lipoma B-NHL MPD Κληρονομικότητα Dom neurofibroma, glioma meningioma, acoustic neuroma Neurofibromatosis type 1 Neurofibromatosis type 2 Rec Rec Dom Dom Dom Dom NSCLC Dom papillary renal cancer T-ALL marginal zone lymphoma, DLBCL Dom Dom Dom NHL, APL, AML extraskeletal myxoid chondrosarcoma melanoma, MM, AML, thyroid Dom Dom Dom AML papillary thyroid Dom Dom 15q25 congenital fibrosarcoma, Secretory breast Dom 11q13 9q34.1 APL AML, T-ALL Dom Dom 11p15 q13 AML lethal midline carcinoma of young people Dom Dom T-ALL aneurysmal bone cysts B-ALL, Downs associated ALL Dom Dom Dom MLCLS Dom 2q35 9p13 1p36.2-p36.12 2q12-q14 3p21 alveolar rhabdomyosarcoma NHL, ALL, B-ALL alveolar rhabdomyosarcoma follicular thyroid clear cell renal carcinoma, breast Dom Dom Dom Dom 1q23 8p22-p21.3 11q23.3 1q12 22q12.3-q13.1 4q11-q13 5q31-q32 17p13.1-17p12 pre B-ALL, myoepithelioma papillary thyroid, CML, MPD MLCLS MPD DFSP GIST, idiopathic hypereosinophilic syndrome MPD, AML, CMML, CML AML, CMML Dom Dom Dom Dom Dom Dom Dom Dom 14q13 Xq13.1 9q34.3 1p13-p11 5q35 9q22 1p13.2 5q35 1q21-q22 21q22.11 9q22.31 Xp22.3; Yp11.3 11q23 4p12 11q14 YES neuroblastoma TALL, AML, Rec neuroblastoma familial neuroblastoma Rec Dom 3q26.3 colorectal, gastric, gliobastoma, breast Dom 5q13.1 gliobastoma, ovarian, colorectal Rec 6p21.2 NHL Dom Σελίδα 7 Germline Mutation (Κληρονομικός) Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 387 388 389 390 PLAG1 PML PMS1 PMS2 8q12 15q22 2q31-q33 YES colorectal, endometrial, ovarian 391 PMX1 7p22 YES colorectal, endometrial, ovarian, medulloblastoma, glioma 392 393 1q24 22q11.2 AML AML Dom Dom 11q23.1 6p21.31 3p25 NHL sarcoma follicular thyroid Dom Dom Dom clear cell ovarian carcinoma papillary renal MDS, AML Dom? Dom Dom Rec 402 403 404 405 406 PNUTL1 POU2AF1 POU5F1 PPARG PPP1R3A PPP2R1A PRCC PRDM16 PRF1 PRKAR1A PRKDC PRO1073 PSIP2 PTCH1 PTEN 407 408 394 395 396 397 398 399 400 401 409 410 411 412 413 414 415 416 417 418 419 420 421 422 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 439 440 441 Τύπος Καρκίνοσ (Somatic Mutations) Τύπος Καρκίνοσ (Germline Mutations) salivary adenoma APL, ALL 19q13.41 1q21.1 1p36.23-p33 10q22 YES 17q23-q24 YES papillary thyroid 11q31.1 9p22.2 9q22.3 YES renal cell carcinoma (childhood epithelioid) AML skin basal cell , medulloblastoma skin basal cell, medulloblastoma PTPN11 10q23.3 YES glioma, prostate, endometrial harmartoma, glioma, prostate, endometrial PTPRD RAB5EP RAD50 RAD51L1 RAF1 RANBP17 RAP1GDS1 RARA RB1 RBM15 RECQL4 REL RET ROBO2 ROR2 ROS1 RPL22 RPN1 RUNX1 RUNXBP2 RYR1 RYR2 SBDS SCL SDH5 SDHB SDHC SDHD SEPT6 SET SETD2 SFPQ SFRS3 SH3GL1 12q24.1 17p13 14q23-q24.2 3p25 5q34 4q21-q25 17q12 13q14 1p13 8q24.3 2p13-p12 10q11.2 Σύνδρομο - Νόσος YES various leukaemia, lymphoma 6q22 1p36.31 3q21.3-q25.2 21q22.3 8p11 myxoma, endocrine, papillary thyroid Carney complex Nevoid Basal Cell Carcinoma Syndrome Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome Dom Dom Rec Rec Dom, Rec Dom Dom Rec Rec JMML, AML, MDS Dom CMML Dom lipoma, uterine leiomyoma pilocytic astrocytoma ALL T-ALL APL Dom Dom Dom Dom Dom retinoblastoma, sarcoma, breast, small cell lung acute megakaryocytic leukemia YES YES Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer, Turcot syndrome Κληρονομικότητα Hodgkin Lymphoma medullary thyroid, papillary thyroid, pheochromocytoma retinoblastoma, sarcoma, breast, small cell lung Familial retinoblastoma osteosarcoma, skin basal and sqamous cell Rothmund-Thompson Syndrome medullary thyroid, papillary thyroid, pheochromocytoma Multiple endocrine neoplasia 2A/2B Rec Dom Rec Dom Dom glioblastoma, NSCLC Dom AML, CML AML AML, preB- ALL, T-ALL AML Dom Dom Dom Dom 7q11 YES AML, MDS Schwachman-Diamond syndrome Rec 11q12.2 YES paraganglioma Familial paraganglioma Rec 1p36.1-p35 1q21 11q23 Xq24 9q34 3p21.31 1p34.3 6p21 YES YES YES paraganglioma, pheochromocytoma paraganglioma, pheochromocytoma paraganglioma, pheochromocytoma Familial paraganglioma Familial paraganglioma Familial paraganglioma AML AML clear cell renal carcinoma papillary renal cell follicular lymphoma Rec Rec Rec Dom Dom Rec Dom Dom AL Dom 19p13.3 Σελίδα 8 Α/Α ΓΟΝΙΔΙΟ 442 443 444 445 446 447 448 449 494 SHOC2 SHP1 SIL SLC45A3 SMAD4 SMARCA4 SMARCB1 SMO SOCS1 SORL1 SOS1 SOX2 SPRED1 SRGAP3 SS18 SS18L1 SSH3BP1 SSX1 SSX2 SSX4 STAT3 STAT5A STK11 STK11IP STK33 STL SUFU SUZ12 SYK TAF15 TAL1 TAL2 TCEA1 TCF1 TCF12 TCF3 TCL1A TCL6(not matched) TERT TET2 TFE3 TFEB TFG TFPT TFRC TGFBR2 TGM3 THRAP3 TIF1 TLR4 TLX1 TLX3 TMPRSS2 495 TNFAIP3 6q23 496 TNFRSF14 TNFRSF17 450 451 452 453 454 455 456 457 458 459 460 461 462 463 464 465 466 467 468 469 470 471 472 473 474 475 476 477 478 479 480 481 482 483 484 485 486 487 488 489 490 491 492 493 497 ΧΡΩΜΟΣΩΜΑ Germline Mutation (Κληρονομικός) 1p32 1q32 19p13.2 22q11 7q31-q32 YES 16p13.13 3q26.3-q27 3p25.3 18q11.2 20q13.3 10p11.2 Xp11.23-p11.22 Xp11.23-p11.22 Xp11.23 19p13.3 YES 6q23 10q24.32 17q11.2 9q22 17q11.1-q11.2 1p32 9q31 8q11.2 12q24.2 15q21 19p13.3 14q32.1 14q32.1 Τύπος Καρκίνοσ (Somatic Mutations) Τύπος Καρκίνοσ (Germline Mutations) Σύνδρομο - Νόσος T-ALL prostate Dom Dom NSCLC malignant rhabdoid skin basal cell Rec Rec Dom malignant rhabdoid Rhabdoid predisposition syndrome Hodgkin Lymphoma, PMBL Rec NSCLC, oesophageal squamous carcinoma Dom pilocytic astrocytoma synovial sarcoma synovial sarcoma Dom Dom Dom AML synovial sarcoma synovial sarcoma synovial sarcoma Dom Dom Dom Dom NSCLC, pancreatic jejunal harmartoma, ovarian, testicular, pancreatic Peutz-Jeghers syndrome B-ALL YES YES Κληρονομικότητα medulloblastoma endometrial stromal tumours MDS, peripheral T-cell lymphoma extraskeletal myxoid chondrosarcomas, ALL lymphoblastic leukemia/biphasic T-ALL salivary adenoma hepatic adenoma, hepatocellular ca extraskeletal myxoid chondrosarcoma pre B-ALL T-CLL T-ALL Rec Dom medulloblastoma Medulloblastoma predisposition hepatic adenoma, hepatocellular ca Familial Hepatic Adenoma Rec Dom Dom Dom Dom Dom Dom Rec Dom Dom Dom Dom 4q24 Xp11.22 6p21 3q11-q12 19q13 3q29 MDS papillary renal, alveolar soft part sarcoma, renal renal (childhood epithelioid) papillary thyroid, ALCL, NSCLC pre-B ALL NHL Rec Dom Dom Dom Dom Dom 1p34.3 7q32-q34 aneurysmal bone cysts APL Dom Dom 10q24 5q35.1 T-ALL T-ALL Dom Dom 21q22.3 Dom 1p36.32 prostate marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma follicular lymphoma 16p13.1 intestinal T-cell lymphoma Dom Rec Rec Σελίδα 9 Α/Α ΓΟΝΙΔΙΟ ΧΡΩΜΟΣΩΜΑ 498 TNFRSF6(FAS) 10q24.1 499 500 TNN TOP1 20q12-q13.1 501 TP53 17p13 502 503 1q22-q23 19p13.1 512 513 514 515 516 517 TPM3 TPM4 TPR TRIM27 TRIM33 TRIP11 TSC1 TSC2 TSHR TTL USP6 VHL WAS WHSC1 WHSC1L1 WRN 17p13 3p25 Xp11.23-p11.22 4p16.3 8p12 8p12-p11.2 518 WT1 11p13 519 WTX XPA XPC ZFHX4 ZNF145 ZNF198 ZNF278 ZNF331 ZNF384 ZNF521 ZNF9 ZNFN1A1 Xq11.1 504 505 506 507 508 509 510 511 520 521 522 523 524 525 526 527 528 529 530 1q25 6p22 1p13 14q31-q32 9q34 16p13.3 14q31 2q13 9q22.3 3p25 11q23.1 13q11-q12 22q12-q14 19q13.3-q13.4 12p13 18q11.2 3q21 7p12 Germline Mutation (Κληρονομικός) Τύπος Καρκίνοσ (Somatic Mutations) Τύπος Καρκίνοσ (Germline Mutations) Σύνδρομο - Νόσος TGCT, nasal NK/T lymphoma, skin squamous cell ca -burn scarrelated YES Rec AML* breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour tumour types types papillary thyroid, ALCL ALCL Dom Li-Fraumeni syndrome YES toxic thyroid adenoma ALL aneurysmal bone cysts renal, hemangioma, pheochromocytoma hamartoma, renal cell hamartoma, renal cell thyroid adenoma Tuberous sclerosis 1 Tuberous sclerosis 2 renal, hemangioma, pheochromocytoma lymphoma von Hippel-Lindau syndrome Wiskott-Aldrich syndrome osteosarcoma, meningioma, others Werner Syndrome Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor MM AML YES YES Wilms, desmoplastic small round cell tumor Wilms Wilms tumour YES YES Rec Dom Dom papillary thyroid papillary thyroid papillary thyroid AML YES YES YES Κληρονομικότητα Dom Dom Dom Dom Rec Rec Dom Dom Dom Rec X-linked recessive Dom Dom Rec Rec Rec skin basal cell, skin squamous cell, melanoma skin basal cell, skin squamous cell, melanoma Xeroderma pigmentosum (A) Xeroderma pigmentosum (C) Rec Rec APL MPD, NHL Ewing sarcoma follicular thyroid adenoma Dom Dom Dom Dom ALL ALL aneurysmal bone cysts ALL, DLBL Dom Dom Dom Dom Σελίδα 10 Σελίδα 11 Σελίδα 12 Σελίδα 13 Σελίδα 14 Σελίδα 15 Σελίδα 16 Σελίδα 17 Σελίδα 18 Σελίδα 19 Σελίδα 20 Σελίδα 21 Σελίδα 22
© Copyright 2024 Paperzz
