Compendium of Cancer Genome Aberrations

Changes

GTS5:Volunteer Assignments and Opportunities (view source)

Revision as of 14:58, 11 June 2024

11,978 bytes added ,  11 June
no edit summary
Line 6: Line 6:     
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 />
 
|-
 
|-
−
|[[Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome (MLH1, PMS2, MSH2, MSH6)]]||Disease||Jennie Thurston
+
|[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
−
|7/2/2023
+
|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
 +
|Ngoni Faya (trainee) + Madina Sukhanova
 +
|7/12/2023
 +
|
 +
|PENDING
 +
|
 +
|Madina Sukhanova (Madina S)
 +
|
 +
|Named based on GTS5 book
 +
|-
 +
|[[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
 +
|Jennifer Laffin
 +
|8/20/2023
 
|
 
|
 
|PENDING
 
|PENDING
 
|
 
|
−
|LS
+
|MS / LS
 
|
 
|
 
|Named based on GTS5 book
 
|Named based on GTS5 book
 
|-
 
|-
−
|[[DICER1-Related Tumour Predisposition Syndrome (DICER1)]]
+
|[[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_&#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)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<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)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<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)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|-
 +
|[[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
 
|Disease
 
|Jennie Thurston
 
|Jennie Thurston
Line 59: Line 658:  
|Named based on GTS5 book
 
|Named based on GTS5 book
 
|-
 
|-
−
|[[Neurofibromatosis Type 1 (NF1)]]
+
|[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]
 
|Disease
 
|Disease
−
|Ngoni Faya (trainee) + Madina Sukhanova
+
|Constance Albarracin / Katherine Geiersbach
−
|7/12/2023
+
|
 +
|
 +
|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
 +
|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
 +
|Evin Gulbahce / Katherine Geiersbach
 +
|
 +
|
 +
|PENDING
 +
|
 +
|Katherine Geiersbach
 +
|
 +
|Named based on GTS5 book (page created 12/30/23)
 +
|-
 +
|[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|Named based on GTS5 book (page created 12/30/23)
 +
|-
 +
|[[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
 +
|Nada Assaf
 +
|6/11/2024
 
|
 
|
 
|PENDING
 
|PENDING
 
|
 
|
−
|Madina Sukhanova (Madina S)
+
|Xiaolin (Lynn) Hu
 
|
 
|
 
|Named based on GTS5 book
 
|Named based on GTS5 book
 
|-
 
|-
−
|[[Familial Adenomatous Polyposis (APC)]]
+
|[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]]
 
|Disease
 
|Disease
−
|Jennifer Laffin
+
|
−
|8/20/2023
+
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Klinefelter_syndrome|Klinefelter syndrome]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Turner_syndrome|Turner syndrome]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Down_syndrome|Down syndrome]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|CHAPTER 6 (TELOMERE MAINTENANCE)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<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)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|-
 +
|[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
 +
|Disease
 +
|Jennie Thurston
 +
|7/2/2023
 
|
 
|
 
|PENDING
 
|PENDING
 
|
 
|
−
|MS / LS
+
|LS
 
|
 
|
 
|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)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|-
 +
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
 
|}<br />
 
|}<br />
Retrieved from "https://ccga.io/index.php/Special:MobileDiff/14067...14479"