GTS5:Volunteer Assignments and Opportunities: Difference between revisions

From Compendium of Cancer Genome Aberrations
Jump to navigation Jump to search
(View all pending changes)
[checked revision][checked revision]
← Older editNewer edit →
VisualWikitext
No edit summary
No edit summary
Line 721: Line 721:
|'''Named based on GTS5 book (page created 12/30/23). Also, content in online WHO PEDS5, CNS5.'''
|'''Named based on GTS5 book (page created 12/30/23). Also, content in online WHO PEDS5, CNS5.'''


'''<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: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)]]
Line 788: Line 788:
|
|
|
|
|
|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 799: Line 799:
|
|
|
|
|
|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 810: Line 810:
|
|
|
|
|
|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 821: Line 821:
|
|
|
|
|
|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)]]
Line 832: Line 832:
|Katherine Geiersbach
|Katherine Geiersbach
|
|
|Named based on GTS5 book (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.
|-
|-
|[[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 843: Line 843:
|
|
|
|
|Named based on GTS5 book (page created 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.
|-
|-
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
Line 854: Line 854:
|
|
|
|
|
|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)]]
Line 865: Line 865:
|
|
|
|
|
|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)]]
Line 876: Line 876:
|Xiaolin (Lynn) Hu
|Xiaolin (Lynn) Hu
|
|
|Named based on GTS5 book (page created 6/11/24). Also, content in online WHO HAEM5, HAN5.
|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)]]
Line 887: Line 887:
|
|
|
|
|
|Named based on GTS5 book. GTS-Specific Template (11-7-24) added 12/29/24. Also, content in online WHO STBT5.
|-
|-
!'''Disease'''
!'''Disease'''
Line 909: Line 909:
|
|
|
|
|
|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 920: Line 920:
|
|
|
|
|
|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 931: Line 931:
|
|
|
|
|
|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]]
Line 942: Line 942:
|Eric McGinnis
|Eric McGinnis
|
|
|Named based on GTS5 book (page created 7/12/24)
|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]]
Line 953: Line 953:
|Eric McGinnis
|Eric McGinnis
|
|
|'''Named based on GTS5 book (page created 7/12/24)'''
|'''Named based on GTS5 book (page created 7/12/24). No other books have content.'''


'''<br />'''
'''<br />'''
GTS-SPECIFIC TEMPLATE (9-1-24).
'''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 967: Line 967:
|Eric McGinnis
|Eric McGinnis
|
|
|Named based on GTS5 book (page created 7/12/24)
|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.
|-
|-
|
|

Revision as of 16:19, 29 December 2024

Welcome!

For assignments, please see the "Author" column below (highlighted blue).

If empty (no name is present), please volunteer to create content for that disease!

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

WHO Classification of Genetic Tumour Syndromes (5th Edition) Content
Disease Page Type Author Date Assigned to Author Target Completion Date Author Content (Pending or Complete) Date Completed by Author Associate Editor Date of Last Editor Review Notes

CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)









Hereditary papillary renal carcinoma (MET) Disease 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. Also, content in online WHO EYE5, 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 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 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 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 Constance Albarracin / Katherine Geiersbach 12/6/2023 3/6/2024 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, FEMA5.
PALB2-related cancer predisposition syndrome (PALB2) 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.
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 Evin Gulbahce / Katherine Geiersbach 12/11/2023 3/11/2024 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 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 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 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 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
POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter) Disease
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
Enchondromatosis (IDH1, IDH2) Disease
Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4) Disease
Schwannomatosis (SMARCB1, LZTR1) Disease
Clear cell meningioma predisposition syndrome (SMARCE1) Disease
Weaver syndrome (EZH2) Disease

CHAPTER 8 (RNA REGULATION)









DICER1-related tumour predisposition syndrome (DICER1) Disease Jennie Thurston 7/2/2023 PENDING LS Named based on GTS5 book (page created 7/12/24). Also, content in online WHO ENDO5, PEDS5, CNS5, FEMA5.
MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8) Disease
Goldenhar syndrome (MYT1, SF3B2) Disease
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


Retrieved from "https://test.ccga.io/index.php?title=GTS5:Volunteer_Assignments_and_Opportunities&oldid=15599"