GTS5:Volunteer Assignments and Opportunities: Difference between revisions

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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 />
__TOC__
{| 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 19:
!'''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 40:
----<br />
----<br />
|-
|-
|[[Neurofibromatosis Type 1 (NF1)]]
|[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
|Disease
|Farid Ullah, MS PhD
|2/19/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5.
|-
|[[GTS5:Multiple_endocrine_neoplasia_type_2_(RET)|Multiple endocrine neoplasia type 2 (RET)]]
|Disease
|Amrit Kaler, MD
|7/15/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAN5, ENDO5.
|-
|[[GTS5:Juvenile_polyposis_syndrome_(BMPR1A,_SMAD4)|Juvenile polyposis syndrome (BMPR1A, SMAD4)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO DIG5.
|-
|[[GTS5:Hereditary_neuroblastoma_(ALK,_PHOX2B)|Hereditary neuroblastoma (ALK, PHOX2B)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Encephalocraniocutaneous_lipomatosis_(FGFR1)|Encephalocraniocutaneous lipomatosis (FGFR1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Glucagon_cell_hyperplasia_and_neoplasia_(GCGR)|Glucagon cell hyperplasia and neoplasia (GCGR)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
|-
|[[GTS5:McCune-Albright_syndrome_(GNAS)|McCune-Albright syndrome (GNAS)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5, STBT5.
|-
|[[GTS5:Sturge-Weber_syndrome_(GNAQ)|Sturge-Weber syndrome (GNAQ)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5.
|-
|[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]]
|Disease
|Disease
|Ngoni Faya (trainee) + Madina Sukhanova
|Ngoni Faya (trainee) + Madina Sukhanova
Line 48: Line 137:
|Madina Sukhanova (Madina S)
|Madina Sukhanova (Madina S)
|
|
|Named based on GTS5 book
|'''Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. However prior content and so kept original page content and added new template to the top for authors to modify, Also, content in online WHO EYE5, HAN5, ENDO5, PEDS5, CNS5, SBTB5, BRST5.'''
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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'''
|-
|[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO PEDS5, CNS5.
|-
|[[GTS5:Costello_syndrome_(HRAS)|Costello syndrome (HRAS)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Noonan_syndrome_(Various_genes)|Noonan syndrome (Various genes)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Schimmelpenning-Feuerstein-Mims_(HRAS,_KRAS)|Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Carney_complex_(PRKAR1A,_PDE8B,_PDE11A)|Carney complex (PRKAR1A, PDE8B, PDE11A)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO FEMA5, THOR5, MALE5, CNS5, ENDO5, SKIN5.
|-
|[[GTS5:PROS_syndrome_(PIK3CA)|PROS syndrome (PIK3CA)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|-
|[[Familial Adenomatous Polyposis (APC)]]
|[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]]
|Disease
|Disease
|Jennifer Laffin
|Jennifer Laffin
Line 59: Line 225:
|MS / LS
|MS / LS
|
|
|Named based on GTS5 book
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAN5, PEDS5, CNS5, DIG5.
 
(had given author a recent version of the GTS template from 9-1-24 to originally use but no content added into the page).
|-
|[[GTS5:Gastric_Adenocarcinoma_and_Proximal_Polyposis_of_Stomach_-_GAPPS_(APC_promoter)|Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO DIG5.
|-
|[[GTS5:AXIN2-associated_polyposis_(AXIN2)|AXIN2-associated polyposis (AXIN2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Serrated_polyposis_(RNF43)|Serrated polyposis (RNF43)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO DIG5.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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'''
|-
|[[GTS5:WT1_related_tumour_predisposition_syndrome_(WT1)|WT1 related tumour predisposition syndrome (WT1)]]
|Disease
|
|
|
|
|
|
|
|
|-
|-
|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
|[[GTS5:WAGR_syndrome_(WT1)|WAGR syndrome (WT1)]]
|Disease
|Kathleen Bone
|7/12/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO PEDS5.
|-
|[[GTS5:Multiple_endocrine_neoplasia_type_1_(MEN1)|Multiple endocrine neoplasia type 1 (MEN1)]]
|Disease
|Amrit Kaler, MD
|7/15/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
|-
|[[GTS5:Peutz-Jeghers_syndrome_(STK11)|Peutz-Jeghers syndrome (STK11)]]
|Disease
|Amrit Kaler, MD
|7/15/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5, FEMA5, BRST5, DIG5.
|-
|[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO BRST5.
|-
|[[GTS5:Hereditary_mixed_polyposis_syndrome_(GREM1)|Hereditary mixed polyposis syndrome (GREM1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Naevoid_basal_cell_carcinoma_syndrome_-_Gorlin_syndrome_(PTCH1,_SUFU,_GPR161)|Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)]]
|Disease
|Ying-Hsia Chu, MD
|6/24/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5, SKIN5, PEDS5, HAN5.
|-
|[[GTS5:SMO-related_Curry-Jones_syndrome_(SMO)|SMO-related Curry-Jones syndrome (SMO)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:ELP1-related_medulloblastoma_predisposition_syndrome(ELP1)|ELP1-related medulloblastoma predisposition syndrome(ELP1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5.
|-
|[[GTS5:Osteochondromatosis_(EXT1,_EXT2)|Osteochondromatosis (EXT1, EXT2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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'''
|-
|[[GTS5:Brooke-Spiegler_syndrome_(CYLD)|Brooke-Spiegler syndrome (CYLD)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO SKIN5, HAN5.
|-
|[[GTS5:Tuberous_sclerosis_(TSC1,_TSC1)|Tuberous sclerosis (TSC1, TSC1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5, CNS5, PEDS5, HAN5.
|-
|[[GTS5:PTEN_hamartoma_tumour_syndrome_(PTEN)|PTEN hamartoma tumour syndrome (PTEN)]]
|Disease
|Amrit Kaler, MD
|7/15/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAN5, CNS5, FEMA5, BRST5.
|-
|[[GTS5:Activated_Phosphatidylinositol-3-OH_kinase_&#948;_Syndrome_-_APDS_(PIK3CD)|Activated Phosphatidylinositol-3-OH kinase &#948; Syndrome - APDS (PIK3CD)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Multiple_endocrine_neoplasia_type_5,_MAX_related_tumours_(MAX)|Multiple endocrine neoplasia type 5, MAX related tumours (MAX)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
|-
|[[GTS5:MAFA-related_familial_insulinomatosis_(MAFA)|MAFA-related familial insulinomatosis (MAFA)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
|-
|[[GTS5:Birt-Hogg-Dube_syndrome_(FLCN)|Birt-Hogg-Dube syndrome (FLCN)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5.
|-
|[[GTS5:Familial_chordoma_(TBXT)|Familial chordoma (TBXT)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Hyperparathyroidism_jaw_tumour_syndrome_(CDC73)|Hyperparathyroidism jaw tumour syndrome (CDC73)]]
|Disease
|Ying-Hsia Chu, MD
|6/24/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)====
|
|
----<br />
----<br />
Line 81: Line 525:
----<br />
----<br />
|-
|-
|CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)
|[[GTS5:Von_Hippel-Lindau_syndrome_(VHL)|Von Hippel-Lindau syndrome (VHL)]]
|Disease
|Lakshmi Chandramohan
|6/24/24
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24.  Had previously added an older template on 6/24/24. Also, content in online WHO EYE5, HAN5, ENDO5, MALE5, PEDS5, CNS5, FEMA5.
|-
|[[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
|Amrit Kaler, MD
|7/15/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Had previously added an old template on 7/15/24. Also, content in online WHO ENDO5.
|-
|[[GTS5:Hereditary_leiomyomatosis_and_renal_cell_carcinoma_syndrome_(FH)|Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)]]
|Disease
|Ying-Hsia Chu, MD
|6/24/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO FEMA5, MALE5.
|-
|[[GTS5:Hereditary_tyrosinaemia_type_1_(FAH)|Hereditary tyrosinaemia type 1 (FAH)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|
====CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)====
|
|
----<br />
----<br />
Line 101: Line 590:
----<br />
----<br />
|-
|-
|CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
|[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]]
|Disease
|Lakshmi Chandramohan
|6/24/24
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Previously had added an old template on 12/30/23. Also, content in online WHO BRST5, HAN5, PEDS5, CNS5, THOR5, FEMA5, STBT5.
|-
|[[GTS5:Retinoblastoma_syndrome_(RB1)|Retinoblastoma syndrome (RB1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5, PEDS5, CNS5.
|-
|[[GTS5:Multiple_endocrine_neoplasia_type_4_(CDKN1B)|Multiple endocrine neoplasia type 4 (CDKN1B)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
|-
|[[GTS5:CDKN2A-related_tumour_predisposition_syndrome_(CDKN2A)|CDKN2A-related tumour predisposition syndrome (CDKN2A)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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'''
|-
|[[GTS5:CDK4-related_melanoma_predisposition_syndrome_(CDK4)|CDK4-related melanoma predisposition syndrome (CDK4)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Autoimmune_lymphoproliferative_syndrome_(FAS)|Autoimmune lymphoproliferative syndrome (FAS)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAEM5.
|-
|
====CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)====
|
|
----<br />
----<br />
Line 121: Line 688:
----<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
|Amrit Kaler, MD
|7/15/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Older GTS-specific template (9-1-24) to page created on 7/15/24. Also, content in online WHO MALE5, FEMA5, PEDS5, DIG5.
|-
|[[GTS5:Muir-Torre_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5, SKIN5.
|-
|[[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 128: Line 719:
|LS
|LS
|
|
|Named based on GTS5 book
|'''Named based on GTS5 book (page created 12/30/23). Also, content in online WHO PEDS5, CNS5.'''
 
'''<br />'''
'''GTS-SPECIFIC TEMPLATE (9-1-24).  NEEDS TO BE MODIFIED TO NEWEST TEMPLATE VERSION GTS-Specific Template (11-7-24)!!!!'''
|-
|[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO BRST5, FEMA5.
|-
|[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO BRST5.
|-
|[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Fanconi_anaemia_(FANC_genes)|Fanconi anaemia (FANC genes)]]
|Disease
|Nada Assaf
|6/11/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 6/11/24. Also, content in online WHO HAEM5, HAN5, CNS5.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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'''
|-
|[[GTS5:MUTYH-associated_polyposis_(MUTYH)|MUTYH-associated polyposis (MUTYH)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:NTHL1-related_tumour_syndrome_(NTHL1)|NTHL1-related tumour syndrome (NTHL1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:MBD4-associated_neoplasia_syndrome_(MBD4)|MBD4-associated neoplasia syndrome (MBD4)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Xeroderma_Pigmentosum|Xeroderma Pigmentosum]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO SKIN5, PEDS5.
|-
|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO HAEM5, HAN5, FEM5, BRST5.
|-
|[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO BRST5.
|-
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
|Disease
|Scott Smith
|2/7/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]]
|Disease
|Scott Smith
|2/7/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Bloom_syndrome_(BLM)|Bloom syndrome (BLM)]]
|Disease
|Nada Assaf
|6/11/2024
|
|PENDING
|
|Xiaolin (Lynn) Hu
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 6/11/24. Also, content in online WHO HAEM5, HAN5.
|-
|[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]]
|Disease
|Scott Smith
|2/7/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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'''
|-
|[[GTS5:Rothmund-Thomson_syndrome_(ANAPC1,_RECQL4)|Rothmund-Thomson syndrome (ANAPC1, RECQL4)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5, PEDS5.
|-
|[[GTS5:DDX41-related_haematologic_tumour_predisposition_syndrome_(DDX41)|DDX41-related haematologic tumour predisposition syndrome (DDX41)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|-
|[[BRCA-Related Cancer Predisposition Syndrome (BRCA1, BRCA2)|''BRCA''-Related Cancer Predisposition Syndrome (''BRCA1'', ''BRCA2'')]]
|[[GTS5:Mosaic_variegated_aneuploidy_(BUB1B,_CEP57,_TRIP13,_BUB1,_BUB3)|Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)]]
|Disease
|Disease
|
|
Line 139: Line 931:
|
|
|
|
|Named based on GTS5 book (page created 12/30/23)
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Klinefelter_syndrome|Klinefelter syndrome]]
|Disease
|Kathleen Bone
|7/12/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. No other books have content.
|-
|[[GTS5:Turner_syndrome|Turner syndrome]]
|Disease
|Kathleen Bone
|7/12/2024
|
|PENDING
|
|Eric McGinnis
|
|'''Named based on GTS5 book (page created 7/12/24). No other books have content.'''
 
'''<br />'''
'''GTS-SPECIFIC TEMPLATE (9-1-24).  NEEDS TO BE MODIFIED TO NEWEST TEMPLATE VERSION GTS-Specific Template (11-7-24)!!!!'''
|-
|[[GTS5:Down_syndrome|Down syndrome]]
|Disease
|Kathleen Bone
|7/12/2024
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. No other books have content.
|-
|-
|CHAPTER 6 (TELOMERE MAINTENANCE)
|
====CHAPTER 6 (TELOMERE MAINTENANCE)====
|
|
----<br />
----<br />
Line 161: Line 990:
----<br />
----<br />
|-
|-
|CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
|[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5, HAN5.
|-
|[[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
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)====
|
|
----<br />
----<br />
Line 181: Line 1,044:
----<br />
----<br />
|-
|-
|CHAPTER 8 (RNA REGULATION)
|[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO PEDS5.
|-
|[[GTS5:Enchondromatosis_(IDH1,_IDH2)|Enchondromatosis (IDH1, IDH2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5, PEDS5.
|-
|[[GTS5:Rhabdoid_tumour_predisposition_syndrome_(SMARCB1,_SMARCA4)|Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5, PEDS5.
|-
|[[GTS5:Schwannomatosis_(SMARCB1,_LZTR1)|Schwannomatosis (SMARCB1, LZTR1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5.
|-
|[[GTS5:Clear_cell_meningioma_predisposition_syndrome_(SMARCE1)|Clear cell meningioma predisposition syndrome (SMARCE1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Weaver_syndrome_(EZH2)|Weaver syndrome (EZH2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|
====CHAPTER 8 (RNA REGULATION)====
|
|
----<br />
----<br />
Line 201: Line 1,131:
----<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 210: Line 1,140:
|LS
|LS
|
|
|Named based on GTS5 book
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO ENDO5, PEDS5, CNS5, FEMA5.
|-
|-
|CHAPTER 9 (PROTEIN REGULATION)
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5.
|-
!'''Disease'''
!'''Page Type'''
!'''<span style="color:#0070C0">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 9 (PROTEIN REGULATION)====
|
|
----<br />
----<br />
Line 231: Line 1,195:
|
|
----<br />
----<br />
|-
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
|Disease
|Ying-Hsia Chu, MD
|6/24/2025
|
|PENDING
|
|Eric McGinnis
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO THOR5, MALE5, CNS5, EYE5, SKIN5, PEDS5.
|-
|-
|}<br />
|}<br />

Latest revision as of 07:22, 5 September 2025

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)









Hereditary papillary renal carcinoma (MET) Disease Farid Ullah, MS PhD 2/19/2025 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5.
Multiple endocrine neoplasia type 2 (RET) Disease Amrit Kaler, MD 7/15/2024 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAN5, ENDO5.
Juvenile polyposis syndrome (BMPR1A, SMAD4) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO DIG5.
Hereditary neuroblastoma (ALK, PHOX2B) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Encephalocraniocutaneous lipomatosis (FGFR1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Glucagon cell hyperplasia and neoplasia (GCGR) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
McCune-Albright syndrome (GNAS) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5, STBT5.
Sturge-Weber syndrome (GNAQ) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5.
Neurofibromatosis type 1 (NF1) Disease Ngoni Faya (trainee) + Madina Sukhanova 7/12/2023 PENDING Madina Sukhanova (Madina S) Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. However prior content and so kept original page content and added new template to the top for authors to modify, Also, content in online WHO EYE5, HAN5, ENDO5, PEDS5, CNS5, SBTB5, BRST5.
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
NF2-related schwannomatosis (NF2) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO PEDS5, CNS5.
Costello syndrome (HRAS) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Noonan syndrome (Various genes) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Schimmelpenning-Feuerstein-Mims (HRAS, KRAS) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Carney complex (PRKAR1A, PDE8B, PDE11A) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO FEMA5, THOR5, MALE5, CNS5, ENDO5, SKIN5.
PROS syndrome (PIK3CA) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Familial adenomatous polyposis (APC) Disease Jennifer Laffin 8/20/2023 PENDING MS / LS Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAN5, PEDS5, CNS5, DIG5.

(had given author a recent version of the GTS template from 9-1-24 to originally use but no content added into the page).

Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO DIG5.
AXIN2-associated polyposis (AXIN2) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Serrated polyposis (RNF43) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO DIG5.
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
WT1 related tumour predisposition syndrome (WT1) Disease
WAGR syndrome (WT1) Disease Kathleen Bone 7/12/2024 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO PEDS5.
Multiple endocrine neoplasia type 1 (MEN1) Disease Amrit Kaler, MD 7/15/2024 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
Peutz-Jeghers syndrome (STK11) Disease Amrit Kaler, MD 7/15/2024 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5, FEMA5, BRST5, DIG5.
Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO BRST5.
Hereditary mixed polyposis syndrome (GREM1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161) Disease Ying-Hsia Chu, MD 6/24/2025 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5, SKIN5, PEDS5, HAN5.
SMO-related Curry-Jones syndrome (SMO) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
ELP1-related medulloblastoma predisposition syndrome(ELP1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5.
Osteochondromatosis (EXT1, EXT2) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have 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
Brooke-Spiegler syndrome (CYLD) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO SKIN5, HAN5.
Tuberous sclerosis (TSC1, TSC1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5, CNS5, PEDS5, HAN5.
PTEN hamartoma tumour syndrome (PTEN) Disease Amrit Kaler, MD 7/15/2024 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAN5, CNS5, FEMA5, BRST5.
Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Multiple endocrine neoplasia type 5, MAX related tumours (MAX) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
MAFA-related familial insulinomatosis (MAFA) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
Birt-Hogg-Dube syndrome (FLCN) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5.
Familial chordoma (TBXT) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Hyperparathyroidism jaw tumour syndrome (CDC73) Disease Ying-Hsia Chu, MD 6/24/2025 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have 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 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)









Von Hippel-Lindau syndrome (VHL) Disease Lakshmi Chandramohan 6/24/24 PENDING Eric McGinnis Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Had previously added an older template on 6/24/24. Also, content in online WHO EYE5, HAN5, ENDO5, MALE5, PEDS5, CNS5, FEMA5.
SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2) Disease Amrit Kaler, MD 7/15/2024 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Had previously added an old template on 7/15/24. Also, content in online WHO ENDO5.
Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH) Disease Ying-Hsia Chu, MD 6/24/2025 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO FEMA5, MALE5.
Hereditary tyrosinaemia type 1 (FAH) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.

CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)









Li-Fraumeni syndrome (TP53) Disease Lakshmi Chandramohan 6/24/24 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Previously had added an old template on 12/30/23. Also, content in online WHO BRST5, HAN5, PEDS5, CNS5, THOR5, FEMA5, STBT5.
Retinoblastoma syndrome (RB1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5, PEDS5, CNS5.
Multiple endocrine neoplasia type 4 (CDKN1B) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO ENDO5.
CDKN2A-related tumour predisposition syndrome (CDKN2A) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have 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
CDK4-related melanoma predisposition syndrome (CDK4) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Autoimmune lymphoproliferative syndrome (FAS) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO HAEM5.

CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)









Lynch Syndrome (MLH1, PMS2, MSH2, MSH6) Disease Amrit Kaler, MD 7/15/2024 PENDING Eric McGinnis Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Older GTS-specific template (9-1-24) to page created on 7/15/24. Also, content in online WHO MALE5, FEMA5, PEDS5, DIG5.
Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5, SKIN5.
Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6) Disease Jennie Thurston 7/2/2023 PENDING LS Named based on GTS5 book (page created 12/30/23). Also, content in online WHO PEDS5, CNS5.


GTS-SPECIFIC TEMPLATE (9-1-24). NEEDS TO BE MODIFIED TO NEWEST TEMPLATE VERSION GTS-Specific Template (11-7-24)!!!!

BRCA-related cancer predisposition syndrome (BRCA1, BRCA2) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO BRST5, FEMA5.
PALB2-related cancer predisposition syndrome (PALB2) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO BRST5.
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Fanconi anaemia (FANC genes) Disease Nada Assaf 6/11/2024 PENDING Eric McGinnis Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 6/11/24. Also, content in online WHO HAEM5, HAN5, CNS5.
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
MUTYH-associated polyposis (MUTYH) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
NTHL1-related tumour syndrome (NTHL1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
MBD4-associated neoplasia syndrome (MBD4) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Xeroderma Pigmentosum Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO SKIN5, PEDS5.
Ataxia-telangiectasia syndrome (ATM) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO HAEM5, HAN5, FEM5, BRST5.
CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO BRST5.
Nijmegen breakage syndrome (NBN) Disease Scott Smith 2/7/2025 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Polymerase proofreading-associated polyposis (POLD1, POLE) Disease Scott Smith 2/7/2025 PENDING Eric McGinnis Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Bloom syndrome (BLM) Disease Nada Assaf 6/11/2024 PENDING Xiaolin (Lynn) Hu Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 6/11/24. Also, content in online WHO HAEM5, HAN5.
Werner syndrome (WRN) Disease Scott Smith 2/7/2025 PENDING Eric McGinnis Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5.
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
Rothmund-Thomson syndrome (ANAPC1, RECQL4) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5, PEDS5.
DDX41-related haematologic tumour predisposition syndrome (DDX41) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Klinefelter syndrome Disease Kathleen Bone 7/12/2024 PENDING Eric McGinnis Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. No other books have content.
Turner syndrome Disease Kathleen Bone 7/12/2024 PENDING Eric McGinnis Named based on GTS5 book (page created 7/12/24). No other books have content.


GTS-SPECIFIC TEMPLATE (9-1-24). NEEDS TO BE MODIFIED TO NEWEST TEMPLATE VERSION GTS-Specific Template (11-7-24)!!!!

Down syndrome Disease Kathleen Bone 7/12/2024 PENDING Eric McGinnis Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. No other books have content.

CHAPTER 6 (TELOMERE MAINTENANCE)









Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5, HAN5.
POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have 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 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)









Beckwith-Wiedemann spectrum (IGF2; CDKN1C) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO PEDS5.
Enchondromatosis (IDH1, IDH2) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5, PEDS5.
Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5, PEDS5.
Schwannomatosis (SMARCB1, LZTR1) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5.
Clear cell meningioma predisposition syndrome (SMARCE1) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Weaver syndrome (EZH2) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.

CHAPTER 8 (RNA REGULATION)









DICER1-related tumour predisposition syndrome (DICER1) Disease Jennie Thurston 7/2/2023 PENDING LS Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24 to page created on 7/12/24. Also, content in online WHO ENDO5, PEDS5, CNS5, FEMA5.
MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8) Disease Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Goldenhar syndrome (MYT1, SF3B2) Disease Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5.
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 9 (PROTEIN REGULATION)









BAP1-related tumour predisposition syndrome (BAP1) Disease Ying-Hsia Chu, MD 6/24/2025 PENDING Eric McGinnis Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO THOR5, MALE5, CNS5, EYE5, SKIN5, PEDS5.


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