Difference between revisions of "GTS5:Volunteer Assignments and Opportunities"

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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.
 +
 +
__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 17: Line 19:
 
!'''Notes'''
 
!'''Notes'''
 
|-
 
|-
−
|CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)
+
|
 +
====CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)====
 
|
 
|
 
----<br />
 
----<br />
Line 50: Line 53:
 
|[[GTS5:Multiple_endocrine_neoplasia_type_2_(RET)|Multiple endocrine neoplasia type 2 (RET)]]
 
|[[GTS5:Multiple_endocrine_neoplasia_type_2_(RET)|Multiple endocrine neoplasia type 2 (RET)]]
 
|Disease
 
|Disease
 +
|Amrit Kaler, MD
 +
|7/15/2024
 
|
 
|
 +
|PENDING
 
|
 
|
 +
|Eric McGinnis
 
|
 
|
−
|
+
|Named based on GTS5 book Template added 7/15/24. Also, content in online WHO HAN5, ENDO5.
−
|
 
−
|
 
−
|
 
−
|
 
 
|-
 
|-
 
|[[GTS5:Juvenile_polyposis_syndrome_(BMPR1A,_SMAD4)|Juvenile polyposis syndrome (BMPR1A, SMAD4)]]
 
|[[GTS5:Juvenile_polyposis_syndrome_(BMPR1A,_SMAD4)|Juvenile polyposis syndrome (BMPR1A, SMAD4)]]
Line 135: Line 138:
 
|
 
|
 
|Named based on GTS5 book. Also, content in online WHO EYE5, EYE5, HAN5, ENDO5, PEDS5, CNS5, SBTB5, BRST5.
 
|Named based on GTS5 book. Also, content in online WHO EYE5, 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 212: Line 226:
 
|
 
|
 
|Named based on GTS5 book. Template added 7/12/24. Also, content in online WHO HAN5, PEDS5, CNS5, DIG5.
 
|Named based on GTS5 book. Template added 7/12/24. Also, content in online WHO HAN5, PEDS5, CNS5, DIG5.
 +
 +
 +
GTS-SPECIFIC TEMPLATE (9-1-24).
 
|-
 
|-
 
|[[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)]]
Line 245: Line 262:
 
|
 
|
 
|
 
|
 +
|-
 +
!'''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)]]
Line 270: Line 298:
 
|[[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 Template added 7/15/24. 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 (page created 7/12/24). Also, content in online WHO MALE5, FEMA5, BRST5, DIG5,
 
|Named based on GTS5 book (page created 7/12/24). Also, content in online WHO MALE5, FEMA5, BRST5, DIG5,
Line 355: Line 383:
 
|
 
|
 
|
 
|
 +
|-
 +
!'''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 380: Line 419:
 
|[[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 Template added 7/15/24. No content in other books.
−
|
 
−
|
 
−
|
 
−
|
 
 
|-
 
|-
 
|[[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 455: Line 494:
 
|
 
|
 
|-
 
|-
−
|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
+
!'''Disease'''
 +
!'''Page Type'''
 +
!'''<span style="color:#0070C0">Author'''
 +
!'''Date Assigned to Author'''
 +
!'''Target Completion Date'''
 +
!'''Author Content (Pending or Complete)'''
 +
!'''Date Completed by Author'''
 +
!'''Associate Editor'''
 +
!'''Date of Last Editor Review'''
 +
!'''Notes'''
 +
|-
 +
|
 +
====CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)====
 
|
 
|
 
----<br />
 
----<br />
Line 482: Line 533:
 
|PENDING
 
|PENDING
 
|
 
|
−
|
+
|Eric McGinnis
 
|
 
|
 
|Named based on GTS5 book (page created 6/24/24). Also, content in online WHO EYE5, HAN5, ENDO5, MALE5, PEDS5, CNS5, FEMA5.
 
|Named based on GTS5 book (page created 6/24/24). Also, content in online WHO EYE5, HAN5, ENDO5, MALE5, PEDS5, CNS5, FEMA5.
Line 488: Line 539:
 
|[[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 Template added 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)]]
 
|[[GTS5:Hereditary_leiomyomatosis_and_renal_cell_carcinoma_syndrome_(FH)|Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)]]
Line 519: Line 570:
 
|
 
|
 
|-
 
|-
−
|CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)
+
|
 +
====CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)====
 
|
 
|
 
----<br />
 
----<br />
Line 546: Line 598:
 
|PENDING
 
|PENDING
 
|
 
|
−
|
+
|Eric McGinnis
 
|
 
|
 
|Named based on GTS5 book (page created 12/30/23). Also, content in online WHO BRST5, HAN5, PDS5, CNS5, THOR5, FEMA5, STBT5.
 
|Named based on GTS5 book (page created 12/30/23). Also, content in online WHO BRST5, HAN5, PDS5, CNS5, THOR5, FEMA5, STBT5.
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|
 
|
 
|
 
|
 +
|-
 +
!'''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)]]
 
|[[GTS5:CDK4-related_melanoma_predisposition_syndrome_(CDK4)|CDK4-related melanoma predisposition syndrome (CDK4)]]
Line 605: Line 668:
 
|
 
|
 
|-
 
|-
−
|CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
+
|
 +
====CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)====
 
|
 
|
 
----<br />
 
----<br />
Line 627: Line 691:
 
|[[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 Template added 7/15/24. Also, content in online WHO MALE5, FEMA5, PEDS5, DIG5.
−
|
+
 
−
|
+
 
−
|
+
GTS-SPECIFIC TEMPLATE (9-1-24).
−
|
 
 
|-
 
|-
 
|[[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 657: Line 724:
 
|
 
|
 
|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.
 +
 +
 +
GTS-SPECIFIC TEMPLATE (9-1-24).
 
|-
 
|-
 
|[[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 701: Line 771:
 
|
 
|
 
|Named based on GTS5 book (page created on 6/11/24). Also, content in online WHO HAEM5, HAN5, CNS5.
 
|Named based on GTS5 book (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 811: Line 892:
 
|
 
|
 
|
 
|
 +
|-
 +
!'''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 866: Line 958:
 
|
 
|
 
|Named based on GTS5 book (page created 7/12/24)
 
|Named based on GTS5 book (page created 7/12/24)
 +
 +
 +
GTS-SPECIFIC TEMPLATE (9-1-24).
 
|-
 
|-
 
|[[GTS5:Down_syndrome|Down syndrome]]
 
|[[GTS5:Down_syndrome|Down syndrome]]
Line 878: Line 973:
 
|Named based on GTS5 book (page created 7/12/24)
 
|Named based on GTS5 book (page created 7/12/24)
 
|-
 
|-
−
|CHAPTER 6 (TELOMERE MAINTENANCE)
+
|
 +
====CHAPTER 6 (TELOMERE MAINTENANCE)====
 
|
 
|
 
----<br />
 
----<br />
Line 920: Line 1,016:
 
|
 
|
 
|-
 
|-
−
|CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
+
!'''Disease'''
 +
!'''Page Type'''
 +
!'''<span style="color:#0070C0">Author'''
 +
!'''Date Assigned to Author'''
 +
!'''Target Completion Date'''
 +
!'''Author Content (Pending or Complete)'''
 +
!'''Date Completed by Author'''
 +
!'''Associate Editor'''
 +
!'''Date of Last Editor Review'''
 +
!'''Notes'''
 +
|-
 +
|
 +
====CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)====
 
|
 
|
 
----<br />
 
----<br />
Line 1,006: Line 1,114:
 
|
 
|
 
|-
 
|-
−
|CHAPTER 8 (RNA REGULATION)
+
|
 +
====CHAPTER 8 (RNA REGULATION)====
 
|
 
|
 
----<br />
 
----<br />
Line 1,059: Line 1,168:
 
|
 
|
 
|-
 
|-
−
|CHAPTER 9 (PROTEIN REGULATION)
+
!'''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 />

Latest revision as of 13:51, 10 September 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
Multiple endocrine neoplasia type 2 (RET) Disease Amrit Kaler, MD 7/15/2024 PENDING Eric McGinnis Named based on GTS5 book Template added 7/15/24. Also, content in online WHO HAN5, ENDO5.
Juvenile polyposis syndrome (BMPR1A, SMAD4) Disease
Hereditary neuroblastoma (ALK, PHOX2B) Disease
Encephalocraniocutaneous lipomatosis (FGFR1) Disease
Glucagon cell hyperplasia and neoplasia (GCGR) Disease
McCune-Albright syndrome (GNAS) Disease
Sturge-Weber syndrome (GNAQ) Disease
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 Template added 7/12/24. Also, content in online WHO PEDS5, CNS5.
Costello syndrome (HRAS) Disease
Noonan syndrome (Various genes) Disease
Schimmelpenning-Feuerstein-Mims (HRAS, KRAS) Disease
Carney complex (PRKAR1A, PDE8B, PDE11A) Disease
PROS syndrome (PIK3CA) Disease
Familial adenomatous polyposis (APC) Disease Jennifer Laffin 8/20/2023 PENDING MS / LS Named based on GTS5 book. Template added 7/12/24. Also, content in online WHO HAN5, PEDS5, CNS5, DIG5.


GTS-SPECIFIC TEMPLATE (9-1-24).

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

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 (page created 12/30/23). Also, content in online WHO BRST5, HAN5, PDS5, CNS5, THOR5, FEMA5, STBT5.
Retinoblastoma syndrome (RB1) Disease
Multiple endocrine neoplasia type 4 (CDKN1B) Disease
CDKN2A-related tumour predisposition syndrome (CDKN2A) 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
CDK4-related melanoma predisposition syndrome (CDK4) Disease
Autoimmune lymphoproliferative syndrome (FAS) Disease

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 Template added 7/15/24. Also, content in online WHO MALE5, FEMA5, PEDS5, DIG5.


GTS-SPECIFIC TEMPLATE (9-1-24).

Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6) Disease
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).

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 (page created 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 (page created 7/12/24). Also, content in online WHO BRST5.
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D) Disease
Fanconi anaemia (FANC genes) Disease Nada Assaf 6/11/2024 PENDING Eric McGinnis Named based on GTS5 book (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
NTHL1-related tumour syndrome (NTHL1) Disease
MBD4-associated neoplasia syndrome (MBD4) Disease
Xeroderma Pigmentosum Disease
Ataxia-telangiectasia syndrome (ATM) Disease Evin Gulbahce / Katherine Geiersbach 12/11/2023 3/11/2024 PENDING Katherine Geiersbach Named based on GTS5 book (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 (page created 7/12/24). Also, content in online WHO BRST5.
Nijmegen breakage syndrome (NBN) Disease
Polymerase proofreading-associated polyposis (POLD1, POLE) Disease
Bloom syndrome (BLM) Disease Nada Assaf 6/11/2024 PENDING Xiaolin (Lynn) Hu Named based on GTS5 book (page created 6/11/24). Also, content in online WHO HAEM5, HAN5.
Werner syndrome (WRN) 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
Rothmund-Thomson syndrome (ANAPC1, RECQL4) Disease
DDX41-related haematologic tumour predisposition syndrome (DDX41) Disease
Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3) Disease
Klinefelter syndrome Disease Kathleen Bone 7/12/2024 PENDING Eric McGinnis Named based on GTS5 book (page created 7/12/24)
Turner syndrome Disease Kathleen Bone 7/12/2024 PENDING Eric McGinnis Named based on GTS5 book (page created 7/12/24)


GTS-SPECIFIC TEMPLATE (9-1-24).

Down syndrome Disease Kathleen Bone 7/12/2024 PENDING Eric McGinnis Named based on GTS5 book (page created 7/12/24)

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


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