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

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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 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 61: Line 213:
 
|Named based on GTS5 book
 
|Named based on GTS5 book
 
|-
 
|-
−
|[[Peutz-Jeghers Syndrome (STK11)]]
+
|[[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
 
|Disease
 
|
 
|
Line 72: Line 290:
 
|Named based on GTS5 book (page created 12/30/23)
 
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
−
|[[Hereditary Gastric and Breast Cancer Syndrome (CDH1, CTNNA1)]]
+
|[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]
 
|Disease
 
|Disease
 
|
 
|
Line 82: Line 300:
 
|
 
|
 
|Named based on GTS5 book (page created 12/30/23)
 
|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_&#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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
 
|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
 
|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
Line 102: 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 123: Line 539:
 
----<br />
 
----<br />
 
|-
 
|-
−
|[[Li-Fraumeni Syndrome (TP53)]]
+
|[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]]
 
|Disease
 
|Disease
 
|
 
|
Line 133: Line 549:
 
|
 
|
 
|Named based on GTS5 book (page created 12/30/23)
 
|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 154: 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 163: 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
 
|Disease
 
|Constance Albarracin / Katherine Geiersbach
 
|Constance Albarracin / Katherine Geiersbach
Line 174: Line 669:
 
|Named based on GTS5 book (page created 12/30/23)
 
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
−
|[[PALB2-Related Cancer Predisposition Syndrome (PALB2)]]
+
|[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]]
 
|Disease
 
|Disease
−
|Constance Albarracin / Katherine Geiersbach
+
|Constance Albarracin / Katherine Geiersbach / Jun Liao
 
|
 
|
 
|
 
|
Line 185: Line 680:
 
|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: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
 +
|Nada Assaf
 +
|6/11/2024
 +
|
 +
|PENDING
 +
|
 +
|Eric McGinnis
 +
|
 +
|Named based on GTS5 book
 +
|-
 +
|[[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
 
|Disease
 
|Evin Gulbahce / Katherine Geiersbach
 
|Evin Gulbahce / Katherine Geiersbach
Line 196: Line 757:
 
|Named based on GTS5 book (page created 12/30/23)
 
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
−
|[[CHEK2-Related Hereditary (Breast) Cancer Predisposition Syndrome (CHEK2)]]
+
|[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
 
|Disease
 
|Disease
 
|
 
|
Line 206: Line 767:
 
|
 
|
 
|Named based on GTS5 book (page created 12/30/23)
 
|Named based on GTS5 book (page created 12/30/23)
 +
|-
 +
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
 +
|Disease
 +
|
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|
 +
|
 +
|
 +
|
 +
|
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|
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|
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|-
 +
|[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]]
 +
|Disease
 +
|
 +
|
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|
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|
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|
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|
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|
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|
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|-
 +
|[[GTS5:Bloom_syndrome_(BLM)|Bloom syndrome (BLM)]]
 +
|Disease
 +
|Nada Assaf
 +
|6/11/2024
 +
|
 +
|PENDING
 +
|
 +
|Xiaolin (Lynn) Hu
 +
|
 +
|Named based on GTS5 book
 +
|-
 +
|[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]]
 +
|Disease
 +
|
 +
|
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|
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|
 +
|
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|
 +
|
 +
|
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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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Klinefelter_syndrome|Klinefelter syndrome]]
 +
|Disease
 +
|
 +
|
 +
|
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|
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|
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|
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|
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|
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|-
 +
|[[GTS5:Turner_syndrome|Turner syndrome]]
 +
|Disease
 +
|
 +
|
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|
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|
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|
 +
|
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|
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|
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|-
 +
|[[GTS5:Down_syndrome|Down syndrome]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
 
|CHAPTER 6 (TELOMERE MAINTENANCE)
 
|CHAPTER 6 (TELOMERE MAINTENANCE)
Line 226: Line 897:
 
|
 
|
 
----<br />
 
----<br />
 +
|-
 +
|[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
 
|CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
 
|CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
Line 246: Line 939:
 
|
 
|
 
----<br />
 
----<br />
 +
|-
 +
|[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Enchondromatosis_(IDH1,_IDH2)|Enchondromatosis (IDH1, IDH2)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Rhabdoid_tumour_predisposition_syndrome_(SMARCB1,_SMARCA4)|Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Weaver_syndrome_(EZH2)|Weaver syndrome (EZH2)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
 
|CHAPTER 8 (RNA REGULATION)
 
|CHAPTER 8 (RNA REGULATION)
Line 267: Line 1,026:
 
----<br />
 
----<br />
 
|-
 
|-
−
|[[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 277: Line 1,036:
 
|
 
|
 
|Named based on GTS5 book
 
|Named based on GTS5 book
 +
|-
 +
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
 
|CHAPTER 9 (PROTEIN REGULATION)
 
|CHAPTER 9 (PROTEIN REGULATION)
Line 297: Line 1,078:
 
|
 
|
 
----<br />
 
----<br />
 +
|-
 +
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
 
|}<br />
 
|}<br />

Latest revision as of 14:58, 11 June 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!

To volunteer, please [Contact us] with your page of interest.

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)









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 Ngoni Faya (trainee) + Madina Sukhanova 7/12/2023 PENDING Madina Sukhanova (Madina S) Named based on GTS5 book
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 Jennifer Laffin 8/20/2023 PENDING MS / LS Named based on GTS5 book
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 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)
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
CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)









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
CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)









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









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 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)
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D) Disease
Fanconi anaemia (FANC genes) Disease Nada Assaf 6/11/2024 PENDING Eric McGinnis Named based on GTS5 book
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 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)
Nijmegen breakage syndrome (NBN) Disease
Polymerase proofreading-associated polyposis (POLD1, POLE) Disease
Bloom syndrome (BLM) Disease Nada Assaf 6/11/2024 PENDING Xiaolin (Lynn) Hu Named based on GTS5 book
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
CHAPTER 6 (TELOMERE MAINTENANCE)









Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes) Disease
POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter) Disease
CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)









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
CHAPTER 8 (RNA REGULATION)









DICER1-related tumour predisposition syndrome (DICER1) Disease Jennie Thurston 7/2/2023 PENDING LS Named based on GTS5 book
MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8) Disease
Goldenhar syndrome (MYT1, SF3B2) Disease
CHAPTER 9 (PROTEIN REGULATION)









BAP1-related tumour predisposition syndrome (BAP1) Disease


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