GTS5:Volunteer Assignments and Opportunities: Difference between revisions

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Removed Hieu Nguyen, since only Parisa Kargaran is working on these pages in Chapter 6.
 
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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 FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)
|
|
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====CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)====
|
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|[[Neurofibromatosis Type 1 (NF1)]]
|Disease
|Ngoni Faya (trainee) + Madina Sukhanova
|7/12/2023
|
|PENDING
|
|Madina Sukhanova (Madina S)
|
|Named based on GTS5 book
|-
|[[Familial Adenomatous Polyposis (APC)]]
|Disease
|Jennifer Laffin
|8/20/2023
|
|PENDING
|
|MS / LS
|
|Named based on GTS5 book
|-
|[[Peutz-Jeghers Syndrome (STK11)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book (page created 12/30/23)
|-
|[[Hereditary Gastric and Breast Cancer Syndrome (CDH1, CTNNA1)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book (page created 12/30/23)
|-
|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
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Line 103: Line 40:
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|-
|-
|CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)
|[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
|
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|-
|[[Li-Fraumeni Syndrome (TP53)]]
|Disease
|Disease
|
|Farid Ullah, MS PhD
|
|2/19/2025
|
|
|
|
|
|Named based on GTS5 book (page created 12/30/23)
|-
|CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
|
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----<br />
|-
|[[Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome (MLH1, PMS2, MSH2, MSH6)]]||Disease||Jennie Thurston
|7/2/2023
|
|
|PENDING
|PENDING
|
|
|LS
|Eric McGinnis
|
|
|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 MALE5.
|-
|-
|[[BRCA-Related Cancer Predisposition Syndrome (BRCA1, BRCA2)|''BRCA''-Related Cancer Predisposition Syndrome (''BRCA1'', ''BRCA2'')]]
|[[GTS5:Multiple_endocrine_neoplasia_type_2_(RET)|Multiple endocrine neoplasia type 2 (RET)]]
|Disease
|Disease
|Constance Albarracin / Katherine Geiersbach
|Amrit Kaler, MD
|
|7/15/2024
|
|
|PENDING
|PENDING
|
|
|Katherine Geiersbach
|Eric McGinnis
|
|
|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. Also, content in online WHO HAN5, ENDO5.
|-
|-
|[[PALB2-Related Cancer Predisposition Syndrome (PALB2)]]
|[[GTS5:Juvenile_polyposis_syndrome_(BMPR1A,_SMAD4)|Juvenile polyposis syndrome (BMPR1A, SMAD4)]]
|Disease
|Constance Albarracin / Katherine Geiersbach / Jun Liao
|
|
|PENDING
|
|Katherine Geiersbach
|
|Named based on GTS5 book (page created 12/30/23)
|-
|[[Ataxia-Telangiectasia Syndrome (ATM)]]
|Disease
|Evin Gulbahce / Katherine Geiersbach
|
|
|PENDING
|
|Katherine Geiersbach
|
|Named based on GTS5 book (page created 12/30/23)
|-
|[[CHEK2-Related Hereditary (Breast) Cancer Predisposition Syndrome (CHEK2)]]
|Disease
|
|
|
|
|
|
|
|Named based on GTS5 book (page created 12/30/23)
|-
|CHAPTER 6 (TELOMERE MAINTENANCE)
|
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|-
|CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
|
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|-
|CHAPTER 8 (RNA REGULATION)
|
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|
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|
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|-
|[[DICER1-Related Tumour Predisposition Syndrome (DICER1)]]
|Disease
|Disease
|Jennie Thurston
|Kristina Garcia, GC
|7/2/2023
|9/10/2025
|
|
|PENDING
|PENDING
|
|
|LS
|Eric McGinnis
|
|Named based on GTS5 book
|-
|CHAPTER 9 (PROTEIN REGULATION)
|
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|-
|}
{| class="wikitable" style="margin:auto"
|+<big>WHO Classification of Genetic Tumour Syndromes (5th Edition) Content</big>
|-
!'''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:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
|Disease
|
|
|
|
|
|
|
|
|-
|[[GTS5:Multiple_endocrine_neoplasia_type_2_(RET)|Multiple endocrine neoplasia type 2 (RET)]]
|Disease
|
|
|
|
|
|
|
|
|-
|[[GTS5:Juvenile_polyposis_syndrome_(BMPR1A,_SMAD4)|Juvenile polyposis syndrome (BMPR1A, SMAD4)]]
|Disease
|
|
|
|
|
|
|
|
|
|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)]]
|[[GTS5:Hereditary_neuroblastoma_(ALK,_PHOX2B)|Hereditary neuroblastoma (ALK, PHOX2B)]]
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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:Encephalocraniocutaneous_lipomatosis_(FGFR1)|Encephalocraniocutaneous lipomatosis (FGFR1)]]
|[[GTS5:Encephalocraniocutaneous_lipomatosis_(FGFR1)|Encephalocraniocutaneous lipomatosis (FGFR1)]]
Line 363: Line 93:
|
|
|
|
|
|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)]]
|[[GTS5:Glucagon_cell_hyperplasia_and_neoplasia_(GCGR)|Glucagon cell hyperplasia and neoplasia (GCGR)]]
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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 ENDO5.
|-
|-
|[[GTS5:McCune-Albright_syndrome_(GNAS)|McCune-Albright syndrome (GNAS)]]
|[[GTS5:McCune-Albright_syndrome_(GNAS)|McCune-Albright syndrome (GNAS)]]
Line 385: Line 115:
|
|
|
|
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|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)]]
|[[GTS5:Sturge-Weber_syndrome_(GNAQ)|Sturge-Weber syndrome (GNAQ)]]
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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 EYE5.
|-
|-
|[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]]
|[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]]
|Disease
|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'''
|
!'''<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)]]
|[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]]
Line 418: Line 160:
|
|
|
|
|
|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)]]
|[[GTS5:Costello_syndrome_(HRAS)|Costello syndrome (HRAS)]]
Line 429: Line 171:
|
|
|
|
|
|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)]]
|[[GTS5:Noonan_syndrome_(Various_genes)|Noonan syndrome (Various genes)]]
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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:Schimmelpenning-Feuerstein-Mims_(HRAS,_KRAS)|Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)]]
|[[GTS5:Schimmelpenning-Feuerstein-Mims_(HRAS,_KRAS)|Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)]]
Line 451: Line 193:
|
|
|
|
|
|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)]]
|[[GTS5:Carney_complex_(PRKAR1A,_PDE8B,_PDE11A)|Carney complex (PRKAR1A, PDE8B, PDE11A)]]
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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 FEMA5, THOR5, MALE5, CNS5, ENDO5, SKIN5.
|-
|-
|[[GTS5:PROS_syndrome_(PIK3CA)|PROS syndrome (PIK3CA)]]
|[[GTS5:PROS_syndrome_(PIK3CA)|PROS syndrome (PIK3CA)]]
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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.
|-
|-
|[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]]
|[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]]
|Disease
|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).
|
|
|-
|-
|[[GTS5:Gastric_Adenocarcinoma_and_Proximal_Polyposis_of_Stomach_-_GAPPS_(APC_promoter)|Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]]
|[[GTS5:Gastric_Adenocarcinoma_and_Proximal_Polyposis_of_Stomach_-_GAPPS_(APC_promoter)|Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]]
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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 DIG5.
|-
|-
|[[GTS5:AXIN2-associated_polyposis_(AXIN2)|AXIN2-associated polyposis (AXIN2)]]
|[[GTS5:AXIN2-associated_polyposis_(AXIN2)|AXIN2-associated polyposis (AXIN2)]]
|Disease
|Disease
|Suhasini Lulla (trainee working with Eric as mentor)
|9/23/25
|
|
|PENDING
|
|
|Eric McGinnis
|
|
|
|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:Serrated_polyposis_(RNF43)|Serrated polyposis (RNF43)]]
|[[GTS5:Serrated_polyposis_(RNF43)|Serrated polyposis (RNF43)]]
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|
|
|
|
|
|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)]]
|[[GTS5:WT1_related_tumour_predisposition_syndrome_(WT1)|WT1 related tumour predisposition syndrome (WT1)]]
|Disease
|Disease
|Kristina Garcia, GC
|9/10/2025
|
|
|PENDING
|
|
|
|Eric McGinnis
|
|
|
|
|
|
|
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|[[GTS5:WAGR_syndrome_(WT1)|WAGR syndrome (WT1)]]
|[[GTS5:WAGR_syndrome_(WT1)|WAGR syndrome (WT1)]]
|Disease
|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)]]
|[[GTS5:Multiple_endocrine_neoplasia_type_1_(MEN1)|Multiple endocrine neoplasia type 1 (MEN1)]]
|Disease
|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)]]
|[[GTS5:Peutz-Jeghers_syndrome_(STK11)|Peutz-Jeghers syndrome (STK11)]]
|Disease
|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)]]
|[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]
|Disease
|Disease
|Jasmine Baker, PhD
|08/25/2025
|12/31/2025
|
|
|
|
|
|
|
|
|
|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)]]
|[[GTS5:Hereditary_mixed_polyposis_syndrome_(GREM1)|Hereditary mixed polyposis syndrome (GREM1)]]
Line 583: Line 338:
|
|
|
|
|
|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)]]
|[[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.
|
|
|
|
|-
|-
|[[GTS5:SMO-related_Curry-Jones_syndrome_(SMO)|SMO-related Curry-Jones syndrome (SMO)]]
|[[GTS5:SMO-related_Curry-Jones_syndrome_(SMO)|SMO-related Curry-Jones syndrome (SMO)]]
Line 605: Line 360:
|
|
|
|
|
|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)]]
|[[GTS5:ELP1-related_medulloblastoma_predisposition_syndrome(ELP1)|ELP1-related medulloblastoma predisposition syndrome(ELP1)]]
Line 616: Line 371:
|
|
|
|
|
|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)]]
|[[GTS5:Osteochondromatosis_(EXT1,_EXT2)|Osteochondromatosis (EXT1, EXT2)]]
Line 627: Line 382:
|
|
|
|
|
|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)]]
|[[GTS5:Brooke-Spiegler_syndrome_(CYLD)|Brooke-Spiegler syndrome (CYLD)]]
Line 638: Line 404:
|
|
|
|
|
|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)]]
|[[GTS5:Tuberous_sclerosis_(TSC1,_TSC1)|Tuberous sclerosis (TSC1, TSC1)]]
|Disease
|Disease
|Faisel Ibrahim
|1/20/2026
|
|
|PENDING
|
|
|Eric McGinnis
|
|
|
|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)]]
|[[GTS5:PTEN_hamartoma_tumour_syndrome_(PTEN)|PTEN hamartoma tumour syndrome (PTEN)]]
|Disease
|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)]]
|[[GTS5:Activated_Phosphatidylinositol-3-OH_kinase_&#948;_Syndrome_-_APDS_(PIK3CD)|Activated Phosphatidylinositol-3-OH kinase &#948; Syndrome - APDS (PIK3CD)]]
Line 671: Line 437:
|
|
|
|
|
|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)]]
|[[GTS5:Multiple_endocrine_neoplasia_type_5,_MAX_related_tumours_(MAX)|Multiple endocrine neoplasia type 5, MAX related tumours (MAX)]]
Line 682: Line 448:
|
|
|
|
|
|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)]]
|[[GTS5:MAFA-related_familial_insulinomatosis_(MAFA)|MAFA-related familial insulinomatosis (MAFA)]]
Line 693: Line 459:
|
|
|
|
|
|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)]]
|[[GTS5:Birt-Hogg-Dube_syndrome_(FLCN)|Birt-Hogg-Dube syndrome (FLCN)]]
Line 704: Line 470:
|
|
|
|
|
|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)]]
|[[GTS5:Familial_chordoma_(TBXT)|Familial chordoma (TBXT)]]
Line 715: Line 481:
|
|
|
|
|
|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)]]
|[[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.
|-
!'''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 />
|
|
----<br />
|
|
|-
----<br />
|[[GTS5:Von_Hippel-Lindau_syndrome_(VHL)|Von Hippel-Lindau syndrome (VHL)]]
|Disease
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|-
|[[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)]]
|[[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
|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_leiomyomatosis_and_renal_cell_carcinoma_syndrome_(FH)|Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)]]
|[[GTS5:Hereditary_tyrosinaemia_type_1_(FAH)|Hereditary tyrosinaemia type 1 (FAH)]]
|Disease
|Disease
|
|
Line 759: Line 568:
|
|
|
|
|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)====
|[[GTS5:Hereditary_tyrosinaemia_type_1_(FAH)|Hereditary tyrosinaemia type 1 (FAH)]]
|Disease
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
----<br />
|-
|-
|[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]]
|[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]]
|Disease
|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)]]
|[[GTS5:Retinoblastoma_syndrome_(RB1)|Retinoblastoma syndrome (RB1)]]
|Disease
|Disease
|Suhasini Lulla (trainee working with Eric as mentor)
|9/23/25
|
|
|PENDING
|
|
|Eric McGinnis
|
|
|
|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)]]
|[[GTS5:Multiple_endocrine_neoplasia_type_4_(CDKN1B)|Multiple endocrine neoplasia type 4 (CDKN1B)]]
Line 803: Line 622:
|
|
|
|
|
|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)]]
|[[GTS5:CDKN2A-related_tumour_predisposition_syndrome_(CDKN2A)|CDKN2A-related tumour predisposition syndrome (CDKN2A)]]
|Disease
|Disease
|Suhasini Lulla (trainee working with Eric as mentor)
|9/23/25
|
|
|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'''
|-
|[[GTS5:CDK4-related_melanoma_predisposition_syndrome_(CDK4)|CDK4-related melanoma predisposition syndrome (CDK4)]]
|Disease
|Xiaolin Hu
|12/9/2025
|
|
|PENDING
|
|
|Eric McGinnis
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|
|-
|-
|[[GTS5:CDK4-related_melanoma_predisposition_syndrome_(CDK4)|CDK4-related melanoma predisposition syndrome (CDK4)]]
|[[GTS5:Autoimmune_lymphoproliferative_syndrome_(FAS)|Autoimmune lymphoproliferative syndrome (FAS)]]
|Disease
|Disease
|
|
Line 825: Line 666:
|
|
|
|
|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)====
|[[GTS5:Autoimmune_lymphoproliferative_syndrome_(FAS)|Autoimmune lymphoproliferative syndrome (FAS)]]
|Disease
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
|
----<br />
|
----<br />
|-
|-
|[[GTS5:Lynch_Syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)]]
|[[GTS5:Lynch_Syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)]]
|Disease
|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)]]
|[[GTS5:Muir-Torre_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)]]
Line 858: Line 709:
|
|
|
|
|
|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)]]
|[[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
|7/2/2023
|
|
|PENDING
|
|
|LS
|
|
|
|'''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)]]
|[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]
|Disease
|Disease
|Parisa Kargaran
|1/9/26
|1/16/2026
|COMPLETE
|
|
|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, FEMA5.
|
|
|
|
|
|-
|-
|[[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
|Parisa Kargaran, Hieu Nguyen
|9/23/2025
|1/16/2026
|COMPLETE
|
|
|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.
|
|
|
|
|
|-
|-
|[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]]
|[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]]
|Disease
|Disease
|Xiaolin Hu
|12/9/2025
|
|
|PENDING
|
|
|Eric McGinnis
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|
|
|
|
|-
|-
|[[GTS5:Fanconi_anaemia_(FANC_genes)|Fanconi anaemia (FANC genes)]]
|[[GTS5:Fanconi_anaemia_(FANC_genes)|Fanconi anaemia (FANC genes)]]
|Disease
|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)]]
|[[GTS5:MUTYH-associated_polyposis_(MUTYH)|MUTYH-associated polyposis (MUTYH)]]
Line 924: Line 789:
|
|
|
|
|
|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)]]
|[[GTS5:NTHL1-related_tumour_syndrome_(NTHL1)|NTHL1-related tumour syndrome (NTHL1)]]
Line 935: Line 800:
|
|
|
|
|
|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)]]
|[[GTS5:MBD4-associated_neoplasia_syndrome_(MBD4)|MBD4-associated neoplasia syndrome (MBD4)]]
Line 946: Line 811:
|
|
|
|
|
|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]]
|[[GTS5:Xeroderma_Pigmentosum|Xeroderma Pigmentosum]]
Line 957: Line 822:
|
|
|
|
|
|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)]]
|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
|Disease
|Disease
|Emilie Lalonde
|12/16/2025
|
|
|PENDING
|
|
|Katherine Geiersbach (Eric McGinnis as needed)
|
|
|
|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)]]
|[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
Line 979: Line 844:
|
|
|
|
|
|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)]]
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
|Disease
|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)]]
|[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]]
|Disease
|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)]]
|[[GTS5:Bloom_syndrome_(BLM)|Bloom syndrome (BLM)]]
|Disease
|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)]]
|[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]]
|Disease
|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)]]
|[[GTS5:Rothmund-Thomson_syndrome_(ANAPC1,_RECQL4)|Rothmund-Thomson syndrome (ANAPC1, RECQL4)]]
Line 1,034: Line 910:
|
|
|
|
|
|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)]]
|[[GTS5:DDX41-related_haematologic_tumour_predisposition_syndrome_(DDX41)|DDX41-related haematologic tumour predisposition syndrome (DDX41)]]
Line 1,045: Line 921:
|
|
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|-
|-
|[[GTS5:Mosaic_variegated_aneuploidy_(BUB1B,_CEP57,_TRIP13,_BUB1,_BUB3)|Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)]]
|[[GTS5:Mosaic_variegated_aneuploidy_(BUB1B,_CEP57,_TRIP13,_BUB1,_BUB3)|Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)]]
Line 1,056: Line 932:
|
|
|
|
|
|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]]
|[[GTS5:Klinefelter_syndrome|Klinefelter syndrome]]
|Disease
|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]]
|[[GTS5:Turner_syndrome|Turner syndrome]]
|Disease
|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)====
|
|
|-
----<br />
|[[GTS5:Down_syndrome|Down syndrome]]
|Disease
|
|
----<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)]]
|[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]]
|Disease
|Disease
|Parisa Kargaran
|1/21/2026
|
|
|PENDING
|
|
|Katherine Geiersbach
|
|
|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
|Parisa Kargaran
|1/21/2026
|
|
|PENDING
|
|
|Katherine Geiersbach
|
|
|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)====
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|[[GTS5:POT1_and_Shelterin-related_tumour_predisposition_syndrome_(POT1,_ACD,_TERF2IP,_TERT_promoter)|POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)]]
|Disease
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|[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]
|[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]
Line 1,122: Line 1,054:
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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 1,133: Line 1,065:
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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 1,144: Line 1,076:
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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 1,155: Line 1,087:
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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 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 1,166: Line 1,098:
|
|
|
|
|
|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 1,177: Line 1,109:
|
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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.
|-
|
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|-
====CHAPTER 8 (RNA REGULATION)====
|[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
|
|Disease
----<br />
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|-
|-
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
|[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
|Disease
|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.
|-
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
|Disease
|Kristina Garcia, GC
|9/10/2025
|
|
|PENDING
|
|
|Eric McGinnis
|
|
|
|Named based on GTS5 book GTS-Specific Template (11-7-24) added 12/29/24. No other books have content.
|
|-
|-
|[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]]
|[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]]
Line 1,210: Line 1,163:
|
|
|
|
|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 />
|
----<br />
|
|
|-
----<br />
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
|Disease
|
|
----<br />
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----<br />
|
|
----<br />
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----<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 10:47, 21 January 2026

Welcome!

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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 Kristina Garcia, GC 9/10/2025 PENDING Eric McGinnis 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 Suhasini Lulla (trainee working with Eric as mentor) 9/23/25 PENDING Eric McGinnis 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 Kristina Garcia, GC 9/10/2025 PENDING Eric McGinnis
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 Jasmine Baker, PhD 08/25/2025 12/31/2025 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 Faisel Ibrahim 1/20/2026 PENDING Eric McGinnis 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 Suhasini Lulla (trainee working with Eric as mentor) 9/23/25 PENDING Eric McGinnis 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 Suhasini Lulla (trainee working with Eric as mentor) 9/23/25 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
CDK4-related melanoma predisposition syndrome (CDK4) Disease Xiaolin Hu 12/9/2025 PENDING Eric McGinnis 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 Parisa Kargaran 1/9/26 1/16/2026 COMPLETE 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, FEMA5.
PALB2-related cancer predisposition syndrome (PALB2) Disease Parisa Kargaran, Hieu Nguyen 9/23/2025 1/16/2026 COMPLETE 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.
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D) Disease Xiaolin Hu 12/9/2025 PENDING Eric McGinnis 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 Emilie Lalonde 12/16/2025 PENDING Katherine Geiersbach (Eric McGinnis as needed) 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 Parisa Kargaran 1/21/2026 PENDING Katherine Geiersbach 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 Parisa Kargaran 1/21/2026 PENDING Katherine Geiersbach 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 Kristina Garcia, GC 9/10/2025 PENDING Eric McGinnis 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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