Difference between revisions of "GTS5:Volunteer Assignments and Opportunities"
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|Madina Sukhanova (Madina S) | |Madina Sukhanova (Madina S) | ||
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− | |Named based on GTS5 book. Also, content in online WHO EYE5. | + | |Named based on GTS5 book. Also, content in online WHO EYE5, EYE5, HAN5, ENDO5, PEDS5, CNS5, SBTB5, BRST5. |
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|[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]] | |[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]] | ||
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− | | | + | |Named based on GTS5 book Template added 7/12/24. Also, content in online WHO PEDS5, CNS5. |
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|[[GTS5:Costello_syndrome_(HRAS)|Costello syndrome (HRAS)]] | |[[GTS5:Costello_syndrome_(HRAS)|Costello syndrome (HRAS)]] |
Revision as of 17:03, 12 July 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.
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 |
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CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS) |
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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. Also, content in online WHO EYE5, EYE5, HAN5, ENDO5, PEDS5, CNS5, SBTB5, BRST5. | |||
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. | |||
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 | 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 | ||||||||
Peutz-Jeghers syndrome (STK11) | Disease | 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 | ||||||||
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) |
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Von Hippel-Lindau syndrome (VHL) | Disease | Lakshmi Chandramohan | 6/24/24 | PENDING | 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 | ||||||||
Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH) | Disease | ||||||||
Hereditary tyrosinaemia type 1 (FAH) | Disease | ||||||||
CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS) |
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Li-Fraumeni syndrome (TP53) | Disease | Lakshmi Chandramohan | 6/24/24 | PENDING | 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 | ||||||||
CDK4-related melanoma predisposition syndrome (CDK4) | Disease | ||||||||
Autoimmune lymphoproliferative syndrome (FAS) | Disease | ||||||||
CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY) |
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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 (page created 12/30/23). Also, content in online WHO PEDS5, CNS5. | |||
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. | |||
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 | ||||||||
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) | |||
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) |
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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) |
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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) |
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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 | ||||||||
CHAPTER 9 (PROTEIN REGULATION) |
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BAP1-related tumour predisposition syndrome (BAP1) | Disease |