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.
  
−
<br />
+
__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 FACTOF RECEPTORS AND RELATED SIGNALLING PATHWAYS)
+
|
 +
====CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)====
 
|
 
|
 
----<br />
 
----<br />
Line 39: Line 40:
 
----<br />
 
----<br />
 
|-
 
|-
−
|[[Neurofibromatosis Type 1 (NF1)]]
+
|[[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
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|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.
 
|-
 
|-
−
|[[Familial Adenomatous Polyposis (APC)]]
+
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]]
 
|Disease
 
|Disease
 
|Jennifer Laffin
 
|Jennifer Laffin
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|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).
 
|-
 
|-
−
|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
+
|[[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_&#948;_Syndrome_-_APDS_(PIK3CD)|Activated Phosphatidylinositol-3-OH kinase &#948; 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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[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 />
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----<br />
 
----<br />
 
|-
 
|-
−
|CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
+
|[[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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Autoimmune_lymphoproliferative_syndrome_(FAS)|Autoimmune lymphoproliferative syndrome (FAS)]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|
 +
====CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)====
 
|
 
|
 
----<br />
 
----<br />
Line 121: Line 689:
 
----<br />
 
----<br />
 
|-
 
|-
−
|[[Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome (MLH1, PMS2, MSH2, MSH6)]]||Disease||Jennie Thurston
+
|[[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 128: 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).
 +
|-
 +
|[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|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.
 +
|-
 +
|[[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
 +
|
 +
|Katherine Geiersbach
 +
|
 +
|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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
−
|[[BRCA-Related Cancer Predisposition Syndrome (BRCA1, BRCA2)|''BRCA''-Related Cancer Predisposition Syndrome (''BRCA1'', ''BRCA2'')]]
+
|[[GTS5:NTHL1-related_tumour_syndrome_(NTHL1)|NTHL1-related tumour syndrome (NTHL1)]]
 
|Disease
 
|Disease
 
|
 
|
Line 139: Line 803:
 
|
 
|
 
|
 
|
−
|Named based on GTS5 book (page created 12/30/23)
+
|
 
|-
 
|-
−
|[[Ataxia-Telangiectasia Syndrome (ATM)]]
+
|[[GTS5:MBD4-associated_neoplasia_syndrome_(MBD4)|MBD4-associated neoplasia syndrome (MBD4)]]
 
|Disease
 
|Disease
 
|
 
|
Line 150: Line 814:
 
|
 
|
 
|
 
|
−
|Named based on GTS5 book (page created 12/30/23)
+
|
 
|-
 
|-
−
|CHAPTER 6 (TELOMERE MAINTENANCE)
+
|[[GTS5:Xeroderma_Pigmentosum|Xeroderma Pigmentosum]]
 +
|Disease
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|-
 +
|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|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.
 +
|-
 +
|[[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
 +
|
 +
|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
 +
|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 7/12/24)
 +
|-
 +
|
 +
====CHAPTER 6 (TELOMERE MAINTENANCE)====
 
|
 
|
 
----<br />
 
----<br />
Line 172: 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 192: 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 212: Line 1,135:
 
----<br />
 
----<br />
 
|-
 
|-
−
|[[DICER1-Related Tumour Predisposition Syndrome (DICER1)]]
+
|[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
 
|Disease
 
|Disease
 
|Jennie Thurston
 
|Jennie Thurston
Line 221: 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
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|-
 
|-
−
|CHAPTER 9 (PROTEIN REGULATION)
+
|[[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)====
 
|
 
|
 
----<br />
 
----<br />
Line 242: 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.

WHO Classification of Genetic Tumour Syndromes (5th Edition) Content
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.
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.


GTS-SPECIFIC TEMPLATE (9-1-24).

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)









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
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)









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).

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.


GTS-SPECIFIC TEMPLATE (9-1-24).

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)


GTS-SPECIFIC TEMPLATE (9-1-24).

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
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)









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
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)









BAP1-related tumour predisposition syndrome (BAP1) Disease


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