GTS5:Volunteer Assignments and Opportunities: Difference between revisions

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|[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
|[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
|Disease
|Disease
|Farid Ullah, MS PhD
|2/19/2025
|
|
|PENDING
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|Eric McGinnis
|
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|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5.
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO MALE5.
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|Madina Sukhanova (Madina S)
|Madina Sukhanova (Madina S)
|
|
|'''Named based on GTS5 book. Also, content in online WHO EYE5, EYE5, HAN5, ENDO5, PEDS5, CNS5, SBTB5, BRST5.'''
|'''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'''
!'''Disease'''
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|[[GTS5:Naevoid_basal_cell_carcinoma_syndrome_-_Gorlin_syndrome_(PTCH1,_SUFU,_GPR161)|Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)]]
|[[GTS5:Naevoid_basal_cell_carcinoma_syndrome_-_Gorlin_syndrome_(PTCH1,_SUFU,_GPR161)|Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)]]
|Disease
|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.
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO CNS5, SKIN5, PEDS5, HAN5.
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|[[GTS5:Hyperparathyroidism_jaw_tumour_syndrome_(CDC73)|Hyperparathyroidism jaw tumour syndrome (CDC73)]]
|[[GTS5:Hyperparathyroidism_jaw_tumour_syndrome_(CDC73)|Hyperparathyroidism jaw tumour syndrome (CDC73)]]
|Disease
|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.
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
Line 549: Line 549:
|[[GTS5:Hereditary_leiomyomatosis_and_renal_cell_carcinoma_syndrome_(FH)|Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)]]
|[[GTS5:Hereditary_leiomyomatosis_and_renal_cell_carcinoma_syndrome_(FH)|Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)]]
|Disease
|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.
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO FEMA5, MALE5.
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|[[GTS5: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
|12/6/2023
|3/6/2024
|PENDING
|
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|Katherine Geiersbach
|
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|
|
|
|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.
|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.
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|[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|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 / Jun Liao
|12/8/2023
|3/8/2024
|PENDING
|
|
|Katherine Geiersbach
|
|
|
|
|
|
|
|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.
|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.
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|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
|Disease
|Disease
|Evin Gulbahce / Katherine Geiersbach
|12/11/2023
|3/11/2024
|PENDING
|
|
|Katherine Geiersbach
|
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|
|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.
|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.
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|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
|Disease
|Disease
|Scott Smith
|2/7/2025
|
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|PENDING
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|Eric McGinnis
|
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|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
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|[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]]
|[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]]
|Disease
|Disease
|Scott Smith
|2/7/2025
|
|
|PENDING
|
|
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|Eric McGinnis
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
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|[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]]
|[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]]
|Disease
|Disease
|Scott Smith
|2/7/2025
|
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|PENDING
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|Eric McGinnis
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5.
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5.
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'''<br />'''
'''<br />'''
'''GTS-SPECIFIC TEMPLATE (9-1-24).  NEEDS TO BE MODIFIED TO NEWEST TEMPLATE VERSION GTS-Specific Template (11-7-24)!!!!'''  
'''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]]
|[[GTS5:Down_syndrome|Down syndrome]]
Line 999: Line 999:
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|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)]]
|[[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)]]
Line 1,010: Line 1,010:
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|
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|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|-
!'''Disease'''
!'''Disease'''
Line 1,053: Line 1,053:
|
|
|
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|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)]]
|[[GTS5:Enchondromatosis_(IDH1,_IDH2)|Enchondromatosis (IDH1, IDH2)]]
Line 1,064: Line 1,064:
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|
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|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)]]
|[[GTS5:Rhabdoid_tumour_predisposition_syndrome_(SMARCB1,_SMARCA4)|Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)]]
Line 1,075: Line 1,075:
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|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)]]
|[[GTS5:Schwannomatosis_(SMARCB1,_LZTR1)|Schwannomatosis (SMARCB1, LZTR1)]]
Line 1,086: Line 1,086:
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|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)]]
|[[GTS5:Clear_cell_meningioma_predisposition_syndrome_(SMARCE1)|Clear cell meningioma predisposition syndrome (SMARCE1)]]
Line 1,097: Line 1,097:
|
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|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)]]
|[[GTS5:Weaver_syndrome_(EZH2)|Weaver syndrome (EZH2)]]
Line 1,108: Line 1,108:
|
|
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|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|-
|
|
Line 1,140: Line 1,140:
|LS
|LS
|
|
|Named based on GTS5 book (page created 7/12/24). Also, content in online WHO ENDO5, PEDS5, CNS5, FEMA5.
|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.
|-
|-
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
Line 1,151: Line 1,151:
|
|
|
|
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|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)]]
|[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]]
Line 1,162: Line 1,162:
|
|
|
|
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|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO EYE5.
|-
|-
!'''Disease'''
!'''Disease'''
Line 1,198: Line 1,198:
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
|Disease
|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!

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 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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