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

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Revision as of 12:27, 25 February 2024

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WHO Classification of Genetic Tumour Syndromes (5th Edition) Content
Disease	Page Type	Author	Date Assigned to Author	Author Content (Pending or Complete)	Associate Editor	Notes
CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)
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)
CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)
Li-Fraumeni Syndrome (TP53)	Disease					Named based on GTS5 book (page created 12/30/23)
CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome (MLH1, PMS2, MSH2, MSH6)	Disease	Jennie Thurston	7/2/2023	PENDING	LS	Named based on GTS5 book
BRCA-Related Cancer Predisposition Syndrome (BRCA1, BRCA2)	Disease	Constance Albarracin / Katherine Geiersbach		PENDING	Katherine Geiersbach	Named based on GTS5 book (page created 12/30/23)
PALB2-Related Cancer Predisposition Syndrome (PALB2)	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)
CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
CHAPTER 8 (RNA REGULATION)
DICER1-Related Tumour Predisposition Syndrome (DICER1)	Disease	Jennie Thurston	7/2/2023	PENDING	LS	Named based on GTS5 book
CHAPTER 9 (PROTEIN REGULATION)

WHO Classification of Genetic Tumour Syndromes (5th Edition) Content
Disease	Page Type	Author	Date Assigned to Author	Author Content (Pending or Complete)	Associate Editor	Notes
CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)
Hereditary papillary renal carcinoma (MET)	Disease
Multiple endocrine neoplasia type 2 (RET)	Disease
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
NF2-related schwannomatosis (NF2)	Disease
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
Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)	Disease
AXIN2-associated polyposis (AXIN2)	Disease
Serrated polyposis (RNF43)	Disease
WT1 related tumour predisposition syndrome (WT1)	Disease
WAGR syndrome (WT1)	Disease
Multiple endocrine neoplasia type 1 (MEN1)	Disease
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)
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
Brooke-Spiegler syndrome (CYLD)	Disease
Tuberous sclerosis (TSC1, TSC1)	Disease
PTEN hamartoma tumour syndrome (PTEN)	Disease
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
CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
Von Hippel-Lindau syndrome (VHL)	Disease
SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2)	Disease
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					Named based on GTS5 book (page created 12/30/23)
Retinoblastoma syndrome (RB1)	Disease
Multiple endocrine neoplasia type 4 (CDKN1B)	Disease
CDKN2A-related tumour predisposition syndrome (CDKN2A)	Disease
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
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
BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)	Disease	Constance Albarracin / Katherine Geiersbach		PENDING	Katherine Geiersbach	Named based on GTS5 book (page created 12/30/23)
PALB2-related cancer predisposition syndrome (PALB2)	Disease	Constance Albarracin / Katherine Geiersbach / Jun Liao		PENDING	Katherine Geiersbach	Named based on GTS5 book (page created 12/30/23)
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)	Disease
Fanconi anaemia (FANC genes)	Disease
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		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)
Nijmegen breakage syndrome (NBN)	Disease
Polymerase proofreading-associated polyposis (POLD1, POLE)	Disease
Bloom syndrome (BLM)	Disease
Werner syndrome (WRN)	Disease
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
Turner syndrome	Disease
Down syndrome	Disease
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
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
MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)	Disease
Goldenhar syndrome (MYT1, SF3B2)	Disease
CHAPTER 9 (PROTEIN REGULATION)
BAP1-related tumour predisposition syndrome (BAP1)	Disease

@@ Line 420: / Line 420: @@
 |[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]]
 |Disease
+|Ngoni Faya (trainee) + Madina Sukhanova
+|7/12/2023
 |
+|PENDING
 |
+|Madina Sukhanova (Madina S)
 |
-|
+|Named based on GTS5 book
-|
-|
-|
-|
 |-
 |[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]]
@@ Line 497: / Line 497: @@
 |[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]]
 |Disease
+|Jennifer Laffin
+|8/20/2023
 |
+|PENDING
 |
+|MS / LS
 |
-|
+|Named based on GTS5 book
-|
-|
-|
-|
 |-
 |[[GTS5:Gastric_Adenocarcinoma_and_Proximal_Polyposis_of_Stomach_-_GAPPS_(APC_promoter)|Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]]
@@ Line 581: / Line 581: @@
 |
 |
-|
+|Named based on GTS5 book (page created 12/30/23)
 |-
 |[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]
@@ Line 592: / Line 592: @@
 |
 |
-|
+|Named based on GTS5 book (page created 12/30/23)
 |-
 |[[GTS5:Hereditary_mixed_polyposis_syndrome_(GREM1)|Hereditary mixed polyposis syndrome (GREM1)]]
@@ Line 841: / Line 841: @@
 |
 |
-|
+|Named based on GTS5 book (page created 12/30/23)
 |-
 |[[GTS5:Retinoblastoma_syndrome_(RB1)|Retinoblastoma syndrome (RB1)]]
@@ Line 942: / Line 942: @@
 |[[GTS5:Constitutional_mismatch_repair_deficiency_(CMMRD)_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)]]
 |Disease
+|Jennie Thurston
+|7/2/2023
 |
+|PENDING
 |
+|LS
 |
-|
+|Named based on GTS5 book
-|
-|
-|
-|
 |-
 |[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]
 |Disease
+|Constance Albarracin / Katherine Geiersbach
 |
 |
+|PENDING
 |
+|Katherine Geiersbach
 |
-|
+|Named based on GTS5 book (page created 12/30/23)
-|
-|
-|
 |-
 |[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]]
 |Disease
+|Constance Albarracin / Katherine Geiersbach / Jun Liao
 |
 |
+|PENDING
 |
+|Katherine Geiersbach
 |
-|
+|Named based on GTS5 book (page created 12/30/23)
-|
-|
-|
 |-
 |[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]]
@@ Line 1,041: / Line 1,041: @@
 |[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
 |Disease
+|Evin Gulbahce / Katherine Geiersbach
 |
 |
+|PENDING
 |
+|Katherine Geiersbach
 |
-|
+|Named based on GTS5 book (page created 12/30/23)
-|
-|
-|
 |-
 |[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
@@ Line 1,059: / Line 1,059: @@
 |
 |
-|
+|Named based on GTS5 book (page created 12/30/23)
 |-
 |[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
@@ Line 1,321: / Line 1,321: @@
 |[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
 |Disease
+|Jennie Thurston
+|7/2/2023
 |
+|PENDING
 |
+|LS
 |
-|
+|Named based on GTS5 book
-|
-|
-|
-|
 |-
 |[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]

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

Revision as of 12:27, 25 February 2024

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