Difference between revisions of "GTS5:Volunteer Assignments and Opportunities"

From Compendium of Cancer Genome Aberrations
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----<br />
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|-
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{| class="wikitable" style="margin:auto"
 +
|+<big>WHO Classification of Genetic Tumour Syndromes (5th Edition) Content</big>
 +
|-
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!'''Disease'''!!'''Page Type'''!!'''<span style="color:#0070C0">Author'''
 +
!'''Date Assigned to Author'''
 +
!'''Target Completion Date'''
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!'''Author Content (Pending or Complete)'''
 +
!'''Date Completed by Author'''!!'''Associate Editor'''
 +
!'''Date of Last Editor Review'''
 +
!'''Notes'''
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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_&#948;_Syndrome_-_APDS_(PIK3CD)|Activated Phosphatidylinositol-3-OH kinase &#948; 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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Bloom_syndrome_(BLM)|Bloom syndrome (BLM)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Rothmund-Thomson_syndrome_(ANAPC1,_RECQL4)|Rothmund-Thomson syndrome (ANAPC1, RECQL4)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:DDX41-related_haematologic_tumour_predisposition_syndrome_(DDX41)|DDX41-related haematologic tumour predisposition syndrome (DDX41)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Mosaic_variegated_aneuploidy_(BUB1B,_CEP57,_TRIP13,_BUB1,_BUB3)|Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)]]
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|Disease
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|[[GTS5:Klinefelter_syndrome|Klinefelter syndrome]]
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|Disease
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|[[GTS5:Turner_syndrome|Turner syndrome]]
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|Disease
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|-
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|[[GTS5:Down_syndrome|Down syndrome]]
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|Disease
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|-
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|[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]]
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|Disease
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|
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|-
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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)]]
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|Disease
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|-
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|[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]
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|Disease
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|-
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|[[GTS5:Enchondromatosis_(IDH1,_IDH2)|Enchondromatosis (IDH1, IDH2)]]
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|Disease
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|-
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|[[GTS5:Rhabdoid_tumour_predisposition_syndrome_(SMARCB1,_SMARCA4)|Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)]]
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|Disease
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|-
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|[[GTS5:Schwannomatosis_(SMARCB1,_LZTR1)|Schwannomatosis (SMARCB1, LZTR1)]]
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|Disease
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|-
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|[[GTS5:Clear_cell_meningioma_predisposition_syndrome_(SMARCE1)|Clear cell meningioma predisposition syndrome (SMARCE1)]]
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|Disease
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|
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|-
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|[[GTS5:Weaver_syndrome_(EZH2)|Weaver syndrome (EZH2)]]
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|Disease
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|-
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|[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
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|Disease
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|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
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|Disease
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|[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]]
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|Disease
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|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
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|Disease
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Revision as of 12:17, 25 February 2024

Welcome!

For assignments, please see the "Author" column below (highlighted blue).

If empty (no name is present), please volunteer to create content for that disease!

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WHO Classification of Genetic Tumour Syndromes (5th Edition) Content
Disease Page Type Author Date Assigned to Author Target Completion Date Author Content (Pending or Complete) Date Completed by Author Associate Editor Date of Last Editor Review Notes
CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)









Neurofibromatosis Type 1 (NF1) Disease Ngoni Faya (trainee) + Madina Sukhanova 7/12/2023 PENDING Madina Sukhanova (Madina S) Named based on GTS5 book
Familial Adenomatous Polyposis (APC) Disease Jennifer Laffin 8/20/2023 PENDING MS / LS Named based on GTS5 book
Peutz-Jeghers Syndrome (STK11) Disease Named based on GTS5 book (page created 12/30/23)
Hereditary Gastric and Breast Cancer Syndrome (CDH1, CTNNA1) Disease Named based on GTS5 book (page created 12/30/23)
CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)









CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)









Li-Fraumeni Syndrome (TP53) Disease Named based on GTS5 book (page created 12/30/23)
CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)









Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome (MLH1, PMS2, MSH2, MSH6) Disease Jennie Thurston 7/2/2023 PENDING LS Named based on GTS5 book
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)
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)
Ataxia-Telangiectasia Syndrome (ATM) Disease Evin Gulbahce / Katherine Geiersbach PENDING Katherine Geiersbach Named based on GTS5 book (page created 12/30/23)
CHEK2-Related Hereditary (Breast) Cancer Predisposition Syndrome (CHEK2) Disease Named based on GTS5 book (page created 12/30/23)
CHAPTER 6 (TELOMERE MAINTENANCE)









CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)









CHAPTER 8 (RNA REGULATION)









DICER1-Related Tumour Predisposition Syndrome (DICER1) Disease Jennie Thurston 7/2/2023 PENDING LS Named based on GTS5 book
CHAPTER 9 (PROTEIN REGULATION)









WHO Classification of Genetic Tumour Syndromes (5th Edition) Content
Disease Page Type Author Date Assigned to Author Target Completion Date Author Content (Pending or Complete) Date Completed by Author Associate Editor Date of Last Editor Review Notes
Hereditary papillary renal carcinoma (MET) Disease
Multiple endocrine neoplasia type 2 (RET) Disease
Juvenile polyposis syndrome (BMPR1A, SMAD4) Disease
Hereditary neuroblastoma (ALK, PHOX2B) Disease
Encephalocraniocutaneous lipomatosis (FGFR1) Disease
Glucagon cell hyperplasia and neoplasia (GCGR) Disease
McCune-Albright syndrome (GNAS) Disease
Sturge-Weber syndrome (GNAQ) Disease
Neurofibromatosis type 1 (NF1) Disease
NF2-related schwannomatosis (NF2) Disease
Costello syndrome (HRAS) Disease
Noonan syndrome (Various genes) Disease
Schimmelpenning-Feuerstein-Mims (HRAS, KRAS) Disease
Carney complex (PRKAR1A, PDE8B, PDE11A) Disease
PROS syndrome (PIK3CA) Disease
Familial adenomatous polyposis (APC) Disease
Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter) Disease
AXIN2-associated polyposis (AXIN2) Disease
Serrated polyposis (RNF43) Disease
WT1 related tumour predisposition syndrome (WT1) Disease
WAGR syndrome (WT1) Disease
Multiple endocrine neoplasia type 1 (MEN1) Disease
Peutz-Jeghers syndrome (STK11) Disease
Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1) Disease
Hereditary mixed polyposis syndrome (GREM1) Disease
Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161) Disease
SMO-related Curry-Jones syndrome (SMO) Disease
ELP1-related medulloblastoma predisposition syndrome(ELP1) Disease
Osteochondromatosis (EXT1, EXT2) Disease
Brooke-Spiegler syndrome (CYLD) Disease
Tuberous sclerosis (TSC1, TSC1) Disease
PTEN hamartoma tumour syndrome (PTEN) Disease
Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD) Disease
Multiple endocrine neoplasia type 5, MAX related tumours (MAX) Disease
MAFA-related familial insulinomatosis (MAFA) Disease
Birt-Hogg-Dube syndrome (FLCN) Disease
Familial chordoma (TBXT) Disease
Hyperparathyroidism jaw tumour syndrome (CDC73) Disease
Von Hippel-Lindau syndrome (VHL) Disease
SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2) Disease
Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH) Disease
Hereditary tyrosinaemia type 1 (FAH) Disease
Li-Fraumeni syndrome (TP53) Disease
Retinoblastoma syndrome (RB1) Disease
Multiple endocrine neoplasia type 4 (CDKN1B) Disease
CDKN2A-related tumour predisposition syndrome (CDKN2A) Disease
CDK4-related melanoma predisposition syndrome (CDK4) Disease
Autoimmune lymphoproliferative syndrome (FAS) Disease
Lynch Syndrome (MLH1, PMS2, MSH2, MSH6) Disease
Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6) Disease
Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6) Disease
BRCA-related cancer predisposition syndrome (BRCA1, BRCA2) Disease
PALB2-related cancer predisposition syndrome (PALB2) Disease
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D) Disease
Fanconi anaemia (FANC genes) Disease
MUTYH-associated polyposis (MUTYH) Disease
NTHL1-related tumour syndrome (NTHL1) Disease
MBD4-associated neoplasia syndrome (MBD4) Disease
Xeroderma Pigmentosum Disease
Ataxia-telangiectasia syndrome (ATM) Disease
CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2) Disease
Nijmegen breakage syndrome (NBN) Disease
Polymerase proofreading-associated polyposis (POLD1, POLE) Disease
Bloom syndrome (BLM) Disease
Werner syndrome (WRN) Disease
Rothmund-Thomson syndrome (ANAPC1, RECQL4) Disease
DDX41-related haematologic tumour predisposition syndrome (DDX41) Disease
Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3) Disease
Klinefelter syndrome Disease
Turner syndrome Disease
Down syndrome Disease
Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes) Disease
POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter) Disease
Beckwith-Wiedemann spectrum (IGF2; CDKN1C) Disease
Enchondromatosis (IDH1, IDH2) Disease
Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4) Disease
Schwannomatosis (SMARCB1, LZTR1) Disease
Clear cell meningioma predisposition syndrome (SMARCE1) Disease
Weaver syndrome (EZH2) Disease
DICER1-related tumour predisposition syndrome (DICER1) Disease
MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8) Disease
Goldenhar syndrome (MYT1, SF3B2) Disease
BAP1-related tumour predisposition syndrome (BAP1) Disease


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