GTS5:Volunteer Assignments and Opportunities
Jump to navigation
Jump to search
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 |
|---|---|---|---|---|---|---|---|---|---|
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. | |||
| 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) |
|
|
|
|
|
|
|
|
|
| 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 | ||||||||
| 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.
| |||
| 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) |
|
|
|
|
|
|
|
|
|
| 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 (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) |
|
|
|
|
|
|
|
|
|
| BAP1-related tumour predisposition syndrome (BAP1) | Disease |