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| To volunteer, please '''[[Mailto:CCGA@cancergenomics.org <u>Contact us</u>]]''' with your page of interest. | | To volunteer, please '''[[Mailto:CCGA@cancergenomics.org <u>Contact us</u>]]''' with your page of interest. |
− |
| |
− | <br />
| |
| {| class="wikitable" style="margin:auto" | | {| class="wikitable" style="margin:auto" |
| |+<big>WHO Classification of Genetic Tumour Syndromes (5th Edition) Content</big> | | |+<big>WHO Classification of Genetic Tumour Syndromes (5th Edition) Content</big> |
Line 19: |
Line 17: |
| !'''Notes''' | | !'''Notes''' |
| |- | | |- |
− | |CHAPTER 2 (GROWTH FACTOF RECEPTORS AND RELATED SIGNALLING PATHWAYS) | + | |CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS) |
| | | | | |
| ----<br /> | | ----<br /> |
Line 39: |
Line 37: |
| ----<br /> | | ----<br /> |
| |- | | |- |
− | |[[Neurofibromatosis Type 1 (NF1)]] | + | |[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Multiple_endocrine_neoplasia_type_2_(RET)|Multiple endocrine neoplasia type 2 (RET)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Juvenile_polyposis_syndrome_(BMPR1A,_SMAD4)|Juvenile polyposis syndrome (BMPR1A, SMAD4)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Hereditary_neuroblastoma_(ALK,_PHOX2B)|Hereditary neuroblastoma (ALK, PHOX2B)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Encephalocraniocutaneous_lipomatosis_(FGFR1)|Encephalocraniocutaneous lipomatosis (FGFR1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Glucagon_cell_hyperplasia_and_neoplasia_(GCGR)|Glucagon cell hyperplasia and neoplasia (GCGR)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:McCune-Albright_syndrome_(GNAS)|McCune-Albright syndrome (GNAS)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Sturge-Weber_syndrome_(GNAQ)|Sturge-Weber syndrome (GNAQ)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]] |
| |Disease | | |Disease |
| |Ngoni Faya (trainee) + Madina Sukhanova | | |Ngoni Faya (trainee) + Madina Sukhanova |
Line 50: |
Line 136: |
| |Named based on GTS5 book | | |Named based on GTS5 book |
| |- | | |- |
− | |[[Familial Adenomatous Polyposis (APC)]] | + | |[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Costello_syndrome_(HRAS)|Costello syndrome (HRAS)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Noonan_syndrome_(Various_genes)|Noonan syndrome (Various genes)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Schimmelpenning-Feuerstein-Mims_(HRAS,_KRAS)|Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Carney_complex_(PRKAR1A,_PDE8B,_PDE11A)|Carney complex (PRKAR1A, PDE8B, PDE11A)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:PROS_syndrome_(PIK3CA)|PROS syndrome (PIK3CA)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]] |
| |Disease | | |Disease |
| |Jennifer Laffin | | |Jennifer Laffin |
Line 60: |
Line 212: |
| | | | | |
| |Named based on GTS5 book | | |Named based on GTS5 book |
| + | |- |
| + | |[[GTS5:Gastric_Adenocarcinoma_and_Proximal_Polyposis_of_Stomach_-_GAPPS_(APC_promoter)|Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:AXIN2-associated_polyposis_(AXIN2)|AXIN2-associated polyposis (AXIN2)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Serrated_polyposis_(RNF43)|Serrated polyposis (RNF43)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:WT1_related_tumour_predisposition_syndrome_(WT1)|WT1 related tumour predisposition syndrome (WT1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:WAGR_syndrome_(WT1)|WAGR syndrome (WT1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Multiple_endocrine_neoplasia_type_1_(MEN1)|Multiple endocrine neoplasia type 1 (MEN1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Peutz-Jeghers_syndrome_(STK11)|Peutz-Jeghers syndrome (STK11)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |Named based on GTS5 book (page created 12/30/23) |
| + | |- |
| + | |[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |Named based on GTS5 book (page created 12/30/23) |
| + | |- |
| + | |[[GTS5:Hereditary_mixed_polyposis_syndrome_(GREM1)|Hereditary mixed polyposis syndrome (GREM1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Naevoid_basal_cell_carcinoma_syndrome_-_Gorlin_syndrome_(PTCH1,_SUFU,_GPR161)|Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:SMO-related_Curry-Jones_syndrome_(SMO)|SMO-related Curry-Jones syndrome (SMO)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:ELP1-related_medulloblastoma_predisposition_syndrome(ELP1)|ELP1-related medulloblastoma predisposition syndrome(ELP1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Osteochondromatosis_(EXT1,_EXT2)|Osteochondromatosis (EXT1, EXT2)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Brooke-Spiegler_syndrome_(CYLD)|Brooke-Spiegler syndrome (CYLD)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Tuberous_sclerosis_(TSC1,_TSC1)|Tuberous sclerosis (TSC1, TSC1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:PTEN_hamartoma_tumour_syndrome_(PTEN)|PTEN hamartoma tumour syndrome (PTEN)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Activated_Phosphatidylinositol-3-OH_kinase_δ_Syndrome_-_APDS_(PIK3CD)|Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Multiple_endocrine_neoplasia_type_5,_MAX_related_tumours_(MAX)|Multiple endocrine neoplasia type 5, MAX related tumours (MAX)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:MAFA-related_familial_insulinomatosis_(MAFA)|MAFA-related familial insulinomatosis (MAFA)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Birt-Hogg-Dube_syndrome_(FLCN)|Birt-Hogg-Dube syndrome (FLCN)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Familial_chordoma_(TBXT)|Familial chordoma (TBXT)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Hyperparathyroidism_jaw_tumour_syndrome_(CDC73)|Hyperparathyroidism jaw tumour syndrome (CDC73)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| |- | | |- |
| |CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM) | | |CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM) |
Line 80: |
Line 474: |
| | | | | |
| ----<br /> | | ----<br /> |
| + | |- |
| + | |[[GTS5:Von_Hippel-Lindau_syndrome_(VHL)|Von Hippel-Lindau syndrome (VHL)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:SDH-deficient_tumour_syndrome_-_Hereditary_phaeochromocytoma-paraganglioma_syndromes_(SDHA,_SDHB,_SDHC,_SDHD,_SDHAF2)|SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Hereditary_leiomyomatosis_and_renal_cell_carcinoma_syndrome_(FH)|Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Hereditary_tyrosinaemia_type_1_(FAH)|Hereditary tyrosinaemia type 1 (FAH)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| |- | | |- |
| |CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS) | | |CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS) |
Line 100: |
Line 538: |
| | | | | |
| ----<br /> | | ----<br /> |
| + | |- |
| + | |[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |Named based on GTS5 book (page created 12/30/23) |
| + | |- |
| + | |[[GTS5:Retinoblastoma_syndrome_(RB1)|Retinoblastoma syndrome (RB1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Multiple_endocrine_neoplasia_type_4_(CDKN1B)|Multiple endocrine neoplasia type 4 (CDKN1B)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:CDKN2A-related_tumour_predisposition_syndrome_(CDKN2A)|CDKN2A-related tumour predisposition syndrome (CDKN2A)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:CDK4-related_melanoma_predisposition_syndrome_(CDK4)|CDK4-related melanoma predisposition syndrome (CDK4)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Autoimmune_lymphoproliferative_syndrome_(FAS)|Autoimmune lymphoproliferative syndrome (FAS)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| |- | | |- |
| |CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY) | | |CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY) |
Line 121: |
Line 625: |
| ----<br /> | | ----<br /> |
| |- | | |- |
− | |[[Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome (MLH1, PMS2, MSH2, MSH6)]]||Disease||Jennie Thurston | + | |[[GTS5:Lynch_Syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Muir-Torre_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Constitutional_mismatch_repair_deficiency_(CMMRD)_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)]] |
| + | |Disease |
| + | |Jennie Thurston |
| |7/2/2023 | | |7/2/2023 |
| | | | | |
Line 130: |
Line 658: |
| |Named based on GTS5 book | | |Named based on GTS5 book |
| |- | | |- |
− | |[[BRCA-Related Cancer Predisposition Syndrome (BRCA1, BRCA2)|''BRCA''-Related Cancer Predisposition Syndrome (''BRCA1'', ''BRCA2'')]] | + | |[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]] |
| + | |Disease |
| + | |Constance Albarracin / Katherine Geiersbach |
| + | | |
| + | | |
| + | |PENDING |
| + | | |
| + | |Katherine Geiersbach |
| + | | |
| + | |Named based on GTS5 book (page created 12/30/23) |
| + | |- |
| + | |[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]] |
| + | |Disease |
| + | |Constance Albarracin / Katherine Geiersbach / Jun Liao |
| + | | |
| + | | |
| + | |PENDING |
| + | | |
| + | |Katherine Geiersbach |
| + | | |
| + | |Named based on GTS5 book (page created 12/30/23) |
| + | |- |
| + | |[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Fanconi_anaemia_(FANC_genes)|Fanconi anaemia (FANC genes)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:MUTYH-associated_polyposis_(MUTYH)|MUTYH-associated polyposis (MUTYH)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:NTHL1-related_tumour_syndrome_(NTHL1)|NTHL1-related tumour syndrome (NTHL1)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:MBD4-associated_neoplasia_syndrome_(MBD4)|MBD4-associated neoplasia syndrome (MBD4)]] |
| + | |Disease |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Xeroderma_Pigmentosum|Xeroderma Pigmentosum]] |
| |Disease | | |Disease |
| | | | | |
Line 138: |
Line 743: |
| | | | | |
| | | | | |
| + | | |
| + | | |
| + | |- |
| + | |[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]] |
| + | |Disease |
| + | |Evin Gulbahce / Katherine Geiersbach |
| + | | |
| + | | |
| + | |PENDING |
| + | | |
| + | |Katherine Geiersbach |
| | | | | |
| |Named based on GTS5 book (page created 12/30/23) | | |Named based on GTS5 book (page created 12/30/23) |
| |- | | |- |
− | |[[Ataxia-Telangiectasia Syndrome (ATM)]] | + | |[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]] |
| |Disease | | |Disease |
| | | | | |
Line 151: |
Line 767: |
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| |Named based on GTS5 book (page created 12/30/23) | | |Named based on GTS5 book (page created 12/30/23) |
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| + | |[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]] |
| + | |Disease |
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| + | |[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]] |
| + | |Disease |
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| + | |[[GTS5:Bloom_syndrome_(BLM)|Bloom syndrome (BLM)]] |
| + | |Disease |
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| + | |[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]] |
| + | |Disease |
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| + | |[[GTS5:Rothmund-Thomson_syndrome_(ANAPC1,_RECQL4)|Rothmund-Thomson syndrome (ANAPC1, RECQL4)]] |
| + | |Disease |
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| + | |[[GTS5:DDX41-related_haematologic_tumour_predisposition_syndrome_(DDX41)|DDX41-related haematologic tumour predisposition syndrome (DDX41)]] |
| + | |Disease |
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| + | |[[GTS5:Mosaic_variegated_aneuploidy_(BUB1B,_CEP57,_TRIP13,_BUB1,_BUB3)|Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)]] |
| + | |Disease |
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| + | |[[GTS5:Klinefelter_syndrome|Klinefelter syndrome]] |
| + | |Disease |
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| + | |[[GTS5:Turner_syndrome|Turner syndrome]] |
| + | |Disease |
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| + | |[[GTS5:Down_syndrome|Down syndrome]] |
| + | |Disease |
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| |- | | |- |
| |CHAPTER 6 (TELOMERE MAINTENANCE) | | |CHAPTER 6 (TELOMERE MAINTENANCE) |
Line 171: |
Line 897: |
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| ----<br /> | | ----<br /> |
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| + | |[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]] |
| + | |Disease |
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| + | |[[GTS5:POT1_and_Shelterin-related_tumour_predisposition_syndrome_(POT1,_ACD,_TERF2IP,_TERT_promoter)|POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)]] |
| + | |Disease |
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| |- | | |- |
| |CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING) | | |CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING) |
Line 191: |
Line 939: |
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| ----<br /> | | ----<br /> |
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| + | |[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]] |
| + | |Disease |
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| + | |[[GTS5:Enchondromatosis_(IDH1,_IDH2)|Enchondromatosis (IDH1, IDH2)]] |
| + | |Disease |
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| + | |[[GTS5:Rhabdoid_tumour_predisposition_syndrome_(SMARCB1,_SMARCA4)|Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)]] |
| + | |Disease |
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| + | |[[GTS5:Schwannomatosis_(SMARCB1,_LZTR1)|Schwannomatosis (SMARCB1, LZTR1)]] |
| + | |Disease |
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| + | |[[GTS5:Clear_cell_meningioma_predisposition_syndrome_(SMARCE1)|Clear cell meningioma predisposition syndrome (SMARCE1)]] |
| + | |Disease |
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| + | |[[GTS5:Weaver_syndrome_(EZH2)|Weaver syndrome (EZH2)]] |
| + | |Disease |
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| |- | | |- |
| |CHAPTER 8 (RNA REGULATION) | | |CHAPTER 8 (RNA REGULATION) |
Line 212: |
Line 1,026: |
| ----<br /> | | ----<br /> |
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− | |[[DICER1-Related Tumour Predisposition Syndrome (DICER1)]] | + | |[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]] |
| |Disease | | |Disease |
| |Jennie Thurston | | |Jennie Thurston |
Line 222: |
Line 1,036: |
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| |Named based on GTS5 book | | |Named based on GTS5 book |
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| + | |[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]] |
| + | |Disease |
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| + | |[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]] |
| + | |Disease |
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| |- | | |- |
| |CHAPTER 9 (PROTEIN REGULATION) | | |CHAPTER 9 (PROTEIN REGULATION) |
Line 242: |
Line 1,078: |
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| ----<br /> | | ----<br /> |
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| + | |[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]] |
| + | |Disease |
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| |}<br /> | | |}<br /> |