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 19: | Line 19: | ||
!'''Notes''' | !'''Notes''' | ||
|- | |- | ||
− | |CHAPTER 2 (GROWTH | + | | |
+ | ====CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)==== | ||
| | | | ||
----<br /> | ----<br /> | ||
Line 39: | Line 40: | ||
----<br /> | ----<br /> | ||
|- | |- | ||
− | |[[Neurofibromatosis | + | |[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]] |
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Multiple_endocrine_neoplasia_type_2_(RET)|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. | ||
+ | |- | ||
+ | |[[GTS5:Juvenile_polyposis_syndrome_(BMPR1A,_SMAD4)|Juvenile polyposis syndrome (BMPR1A, SMAD4)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Hereditary_neuroblastoma_(ALK,_PHOX2B)|Hereditary neuroblastoma (ALK, PHOX2B)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Encephalocraniocutaneous_lipomatosis_(FGFR1)|Encephalocraniocutaneous lipomatosis (FGFR1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Glucagon_cell_hyperplasia_and_neoplasia_(GCGR)|Glucagon cell hyperplasia and neoplasia (GCGR)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:McCune-Albright_syndrome_(GNAS)|McCune-Albright syndrome (GNAS)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Sturge-Weber_syndrome_(GNAQ)|Sturge-Weber syndrome (GNAQ)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]] | ||
|Disease | |Disease | ||
|Ngoni Faya (trainee) + Madina Sukhanova | |Ngoni Faya (trainee) + Madina Sukhanova | ||
Line 48: | Line 137: | ||
|Madina Sukhanova (Madina S) | |Madina Sukhanova (Madina S) | ||
| | | | ||
− | |Named based on GTS5 book | + | |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)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |Named based on GTS5 book Template added 7/12/24. Also, content in online WHO PEDS5, CNS5. | ||
+ | |- | ||
+ | |[[GTS5:Costello_syndrome_(HRAS)|Costello syndrome (HRAS)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Noonan_syndrome_(Various_genes)|Noonan syndrome (Various genes)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Schimmelpenning-Feuerstein-Mims_(HRAS,_KRAS)|Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Carney_complex_(PRKAR1A,_PDE8B,_PDE11A)|Carney complex (PRKAR1A, PDE8B, PDE11A)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:PROS_syndrome_(PIK3CA)|PROS syndrome (PIK3CA)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
|- | |- | ||
− | |[[Familial | + | |[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]] |
|Disease | |Disease | ||
|Jennifer Laffin | |Jennifer Laffin | ||
Line 59: | Line 225: | ||
|MS / LS | |MS / LS | ||
| | | | ||
− | |Named based on GTS5 book | + | |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)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:AXIN2-associated_polyposis_(AXIN2)|AXIN2-associated polyposis (AXIN2)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Serrated_polyposis_(RNF43)|Serrated polyposis (RNF43)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | !'''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)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:WAGR_syndrome_(WT1)|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. | ||
+ | |- | ||
+ | |[[GTS5:Multiple_endocrine_neoplasia_type_1_(MEN1)|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. | ||
+ | |- | ||
+ | |[[GTS5:Peutz-Jeghers_syndrome_(STK11)|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, | ||
+ | |- | ||
+ | |[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|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. | ||
+ | |- | ||
+ | |[[GTS5:Hereditary_mixed_polyposis_syndrome_(GREM1)|Hereditary mixed polyposis syndrome (GREM1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Naevoid_basal_cell_carcinoma_syndrome_-_Gorlin_syndrome_(PTCH1,_SUFU,_GPR161)|Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:SMO-related_Curry-Jones_syndrome_(SMO)|SMO-related Curry-Jones syndrome (SMO)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:ELP1-related_medulloblastoma_predisposition_syndrome(ELP1)|ELP1-related medulloblastoma predisposition syndrome(ELP1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Osteochondromatosis_(EXT1,_EXT2)|Osteochondromatosis (EXT1, EXT2)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | !'''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)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Tuberous_sclerosis_(TSC1,_TSC1)|Tuberous sclerosis (TSC1, TSC1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:PTEN_hamartoma_tumour_syndrome_(PTEN)|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. | ||
+ | |- | ||
+ | |[[GTS5:Activated_Phosphatidylinositol-3-OH_kinase_δ_Syndrome_-_APDS_(PIK3CD)|Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Multiple_endocrine_neoplasia_type_5,_MAX_related_tumours_(MAX)|Multiple endocrine neoplasia type 5, MAX related tumours (MAX)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:MAFA-related_familial_insulinomatosis_(MAFA)|MAFA-related familial insulinomatosis (MAFA)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Birt-Hogg-Dube_syndrome_(FLCN)|Birt-Hogg-Dube syndrome (FLCN)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Familial_chordoma_(TBXT)|Familial chordoma (TBXT)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
|- | |- | ||
− | |CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM) | + | |[[GTS5:Hyperparathyroidism_jaw_tumour_syndrome_(CDC73)|Hyperparathyroidism jaw tumour syndrome (CDC73)]] |
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | !'''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 81: | Line 526: | ||
----<br /> | ----<br /> | ||
|- | |- | ||
− | |CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS) | + | |[[GTS5:Von_Hippel-Lindau_syndrome_(VHL)|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. | ||
+ | |- | ||
+ | |[[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 | ||
+ | |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)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Hereditary_tyrosinaemia_type_1_(FAH)|Hereditary tyrosinaemia type 1 (FAH)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | | | ||
+ | ====CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)==== | ||
| | | | ||
----<br /> | ----<br /> | ||
Line 101: | Line 591: | ||
----<br /> | ----<br /> | ||
|- | |- | ||
− | |[[Li-Fraumeni | + | |[[GTS5:Li-Fraumeni_syndrome_(TP53)|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. | ||
+ | |- | ||
+ | |[[GTS5:Retinoblastoma_syndrome_(RB1)|Retinoblastoma syndrome (RB1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Multiple_endocrine_neoplasia_type_4_(CDKN1B)|Multiple endocrine neoplasia type 4 (CDKN1B)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:CDKN2A-related_tumour_predisposition_syndrome_(CDKN2A)|CDKN2A-related tumour predisposition syndrome (CDKN2A)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | !'''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)]] | ||
|Disease | |Disease | ||
| | | | ||
Line 110: | Line 655: | ||
| | | | ||
| | | | ||
− | | | + | | |
|- | |- | ||
− | |CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY) | + | |[[GTS5:Autoimmune_lymphoproliferative_syndrome_(FAS)|Autoimmune lymphoproliferative syndrome (FAS)]] |
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | | | ||
+ | ====CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)==== | ||
| | | | ||
----<br /> | ----<br /> | ||
Line 132: | Line 689: | ||
----<br /> | ----<br /> | ||
|- | |- | ||
− | |[[ | + | |[[GTS5:Lynch_Syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|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). | ||
+ | |- | ||
+ | |[[GTS5:Muir-Torre_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[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 | |7/2/2023 | ||
| | | | ||
Line 139: | Line 723: | ||
|LS | |LS | ||
| | | | ||
− | |Named based on GTS5 book | + | |Named based on GTS5 book (page created 12/30/23). Also, content in online WHO PEDS5, CNS5. |
+ | |||
+ | |||
+ | GTS-SPECIFIC TEMPLATE (9-1-24). | ||
|- | |- | ||
− | |[[BRCA- | + | |[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]] |
|Disease | |Disease | ||
|Constance Albarracin / Katherine Geiersbach | |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. | ||
+ | |- | ||
+ | |[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]] | ||
+ | |Disease | ||
+ | |Constance Albarracin / Katherine Geiersbach / Jun Liao | ||
+ | |12/8/2023 | ||
+ | |3/8/2024 | ||
|PENDING | |PENDING | ||
| | | | ||
|Katherine Geiersbach | |Katherine Geiersbach | ||
| | | | ||
− | |Named based on GTS5 book (page created 12/ | + | |Named based on GTS5 book (page created 7/12/24). Also, content in online WHO BRST5. |
+ | |- | ||
+ | |[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Fanconi_anaemia_(FANC_genes)|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''' | ||
+ | !'''<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)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:NTHL1-related_tumour_syndrome_(NTHL1)|NTHL1-related tumour syndrome (NTHL1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:MBD4-associated_neoplasia_syndrome_(MBD4)|MBD4-associated neoplasia syndrome (MBD4)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Xeroderma_Pigmentosum|Xeroderma Pigmentosum]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
|- | |- | ||
− | |[[Ataxia- | + | |[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]] |
|Disease | |Disease | ||
|Evin Gulbahce / Katherine Geiersbach | |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. | ||
+ | |- | ||
+ | |[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|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. | ||
+ | |- | ||
+ | |[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Polymerase_proofreading-associated_polyposis_(POLD1,_POLE)|Polymerase proofreading-associated polyposis (POLD1, POLE)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Bloom_syndrome_(BLM)|Bloom syndrome (BLM)]] | ||
+ | |Disease | ||
+ | |Nada Assaf | ||
+ | |6/11/2024 | ||
| | | | ||
|PENDING | |PENDING | ||
| | | | ||
− | | | + | |Xiaolin (Lynn) Hu |
+ | | | ||
+ | |Named based on GTS5 book (page created 6/11/24). Also, content in online WHO HAEM5, HAN5. | ||
+ | |- | ||
+ | |[[GTS5:Werner_syndrome_(WRN)|Werner syndrome (WRN)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | !'''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)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:DDX41-related_haematologic_tumour_predisposition_syndrome_(DDX41)|DDX41-related haematologic tumour predisposition syndrome (DDX41)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Mosaic_variegated_aneuploidy_(BUB1B,_CEP57,_TRIP13,_BUB1,_BUB3)|Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
| | | | ||
− | |||
|- | |- | ||
− | |[[ | + | |[[GTS5:Klinefelter_syndrome|Klinefelter syndrome]] |
|Disease | |Disease | ||
+ | |Kathleen Bone | ||
+ | |7/12/2024 | ||
+ | | | ||
+ | |PENDING | ||
| | | | ||
+ | |Eric McGinnis | ||
+ | | | ||
+ | |Named based on GTS5 book (page created 7/12/24) | ||
+ | |- | ||
+ | |[[GTS5:Turner_syndrome|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). | ||
+ | |- | ||
+ | |[[GTS5:Down_syndrome|Down syndrome]] | ||
+ | |Disease | ||
+ | |Kathleen Bone | ||
+ | |7/12/2024 | ||
| | | | ||
+ | |PENDING | ||
| | | | ||
+ | |Eric McGinnis | ||
| | | | ||
− | |Named based on GTS5 book (page created 12/ | + | |Named based on GTS5 book (page created 7/12/24) |
|- | |- | ||
− | |CHAPTER 6 (TELOMERE MAINTENANCE) | + | | |
+ | ====CHAPTER 6 (TELOMERE MAINTENANCE)==== | ||
| | | | ||
----<br /> | ----<br /> | ||
Line 194: | Line 994: | ||
----<br /> | ----<br /> | ||
|- | |- | ||
− | |CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING) | + | |[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]] |
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:POT1_and_Shelterin-related_tumour_predisposition_syndrome_(POT1,_ACD,_TERF2IP,_TERT_promoter)|POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | !'''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 214: | Line 1,048: | ||
----<br /> | ----<br /> | ||
|- | |- | ||
− | |CHAPTER 8 (RNA REGULATION) | + | |[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]] |
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Enchondromatosis_(IDH1,_IDH2)|Enchondromatosis (IDH1, IDH2)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Rhabdoid_tumour_predisposition_syndrome_(SMARCB1,_SMARCA4)|Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Schwannomatosis_(SMARCB1,_LZTR1)|Schwannomatosis (SMARCB1, LZTR1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Clear_cell_meningioma_predisposition_syndrome_(SMARCE1)|Clear cell meningioma predisposition syndrome (SMARCE1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Weaver_syndrome_(EZH2)|Weaver syndrome (EZH2)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | | | ||
+ | ====CHAPTER 8 (RNA REGULATION)==== | ||
| | | | ||
----<br /> | ----<br /> | ||
Line 234: | Line 1,135: | ||
----<br /> | ----<br /> | ||
|- | |- | ||
− | |[[DICER1- | + | |[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]] |
|Disease | |Disease | ||
|Jennie Thurston | |Jennie Thurston | ||
Line 243: | Line 1,144: | ||
|LS | |LS | ||
| | | | ||
− | |Named based on GTS5 book | + | |Named based on GTS5 book (page created 7/12/24). Also, content in online WHO ENDO5, PEDS5, CNS5, FEMA5. |
+ | |- | ||
+ | |[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | |[[GTS5:Goldenhar_syndrome_(MYT1,_SF3B2)|Goldenhar syndrome (MYT1, SF3B2)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | !'''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) | + | | |
+ | ====CHAPTER 9 (PROTEIN REGULATION)==== | ||
| | | | ||
----<br /> | ----<br /> | ||
Line 264: | Line 1,199: | ||
| | | | ||
----<br /> | ----<br /> | ||
+ | |- | ||
+ | |[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]] | ||
+ | |Disease | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | | | ||
|- | |- | ||
|}<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.
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. | |||
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.
| |||
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) |
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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 | ||||||||
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) |
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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.
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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.
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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)
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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 | ||||||||
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) |
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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 | ||||||||
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) |
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BAP1-related tumour predisposition syndrome (BAP1) | Disease |