GTS5:Volunteer Assignments and Opportunities
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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 | 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. | |||
| 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 | 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 | ||||||||
| 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 | ||||||||
| CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM) |
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| 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) |
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| 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 | ||||||||
| 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 | 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. | |||
| 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 |