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 />
 
 
{| 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>
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|
 
|
 
----<br />
 
----<br />
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|[[Neurofibromatosis Type 1 (NF1)]]
 
−
|Disease
 
−
|Ngoni Faya (trainee) + Madina Sukhanova
 
−
|7/12/2023
 
−
|
 
−
|PENDING
 
−
|
 
−
|Madina Sukhanova (Madina S)
 
−
|
 
−
|Named based on GTS5 book
 
−
|-
 
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|[[Familial Adenomatous Polyposis (APC)]]
 
−
|Disease
 
−
|Jennifer Laffin
 
−
|8/20/2023
 
−
|
 
−
|PENDING
 
−
|
 
−
|MS / LS
 
−
|
 
−
|Named based on GTS5 book
 
−
|-
 
−
|[[Peutz-Jeghers Syndrome (STK11)]]
 
−
|Disease
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|Named based on GTS5 book (page created 12/30/23)
 
−
|-
 
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|[[Hereditary Gastric and Breast Cancer Syndrome (CDH1, CTNNA1)]]
 
−
|Disease
 
−
|
 
−
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−
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−
|
 
−
|
 
−
|
 
−
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−
|Named based on GTS5 book (page created 12/30/23)
 
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|-
 
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|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
 
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----<br />
 
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----<br />
 
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|CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)
 
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----<br />
 
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----<br />
 
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----<br />
 
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−
----<br />
 
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−
----<br />
 
−
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−
----<br />
 
−
|-
 
−
|[[Li-Fraumeni Syndrome (TP53)]]
 
−
|Disease
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|Named based on GTS5 book (page created 12/30/23)
 
−
|-
 
−
|CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
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−
----<br />
 
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----<br />
 
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−
----<br />
 
−
|
 
−
----<br />
 
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−
----<br />
 
−
|
 
−
----<br />
 
−
|-
 
−
|[[Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome (MLH1, PMS2, MSH2, MSH6)]]||Disease||Jennie Thurston
 
−
|7/2/2023
 
−
|
 
−
|PENDING
 
−
|
 
−
|LS
 
−
|
 
−
|Named based on GTS5 book
 
−
|-
 
−
|[[BRCA-Related Cancer Predisposition Syndrome (BRCA1, BRCA2)|''BRCA''-Related Cancer Predisposition Syndrome (''BRCA1'', ''BRCA2'')]]
 
−
|Disease
 
−
|Constance Albarracin / Katherine Geiersbach
 
−
|
 
−
|
 
−
|PENDING
 
−
|
 
−
|Katherine Geiersbach
 
−
|
 
−
|Named based on GTS5 book (page created 12/30/23)
 
−
|-
 
−
|[[PALB2-Related Cancer Predisposition Syndrome (PALB2)]]
 
−
|Disease
 
−
|Constance Albarracin / Katherine Geiersbach / Jun Liao
 
−
|
 
−
|
 
−
|PENDING
 
−
|
 
−
|Katherine Geiersbach
 
−
|
 
−
|Named based on GTS5 book (page created 12/30/23)
 
−
|-
 
−
|[[Ataxia-Telangiectasia Syndrome (ATM)]]
 
−
|Disease
 
−
|Evin Gulbahce / Katherine Geiersbach
 
−
|
 
−
|
 
−
|PENDING
 
−
|
 
−
|Katherine Geiersbach
 
−
|
 
−
|Named based on GTS5 book (page created 12/30/23)
 
−
|-
 
−
|[[CHEK2-Related Hereditary (Breast) Cancer Predisposition Syndrome (CHEK2)]]
 
−
|Disease
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|
 
−
|Named based on GTS5 book (page created 12/30/23)
 
−
|-
 
−
|CHAPTER 6 (TELOMERE MAINTENANCE)
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
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−
----<br />
 
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−
----<br />
 
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−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|-
 
−
|CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
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−
----<br />
 
−
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−
----<br />
 
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−
----<br />
 
−
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−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|-
 
−
|CHAPTER 8 (RNA REGULATION)
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
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−
----<br />
 
−
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−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|-
 
−
|[[DICER1-Related Tumour Predisposition Syndrome (DICER1)]]
 
−
|Disease
 
−
|Jennie Thurston
 
−
|7/2/2023
 
−
|
 
−
|PENDING
 
−
|
 
−
|LS
 
−
|
 
−
|Named based on GTS5 book
 
−
|-
 
−
|CHAPTER 9 (PROTEIN REGULATION)
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|
 
−
----<br />
 
−
|-
 
−
|}
 
−
{| class="wikitable" style="margin:auto"
 
−
|+<big>WHO Classification of Genetic Tumour Syndromes (5th Edition) Content</big>
 
−
|-
 
−
!'''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:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
 
|[[GTS5:Hereditary_papillary_renal_carcinoma_(MET)|Hereditary papillary renal carcinoma (MET)]]
Line 400: Line 127:
 
|[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]]
 
|[[GTS5:Neurofibromatosis_type_1_(NF1)|Neurofibromatosis type 1 (NF1)]]
 
|Disease
 
|Disease
 +
|Ngoni Faya (trainee) + Madina Sukhanova
 +
|7/12/2023
 
|
 
|
 +
|PENDING
 
|
 
|
 +
|Madina Sukhanova (Madina S)
 
|
 
|
−
|
+
|Named based on GTS5 book
−
|
 
−
|
 
−
|
 
−
|
 
 
|-
 
|-
 
|[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]]
 
|[[GTS5:NF2-related_schwannomatosis_(NF2)|NF2-related schwannomatosis (NF2)]]
Line 477: Line 204:
 
|[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]]
 
|[[GTS5:Familial_adenomatous_polyposis_(APC)|Familial adenomatous polyposis (APC)]]
 
|Disease
 
|Disease
 +
|Jennifer Laffin
 +
|8/20/2023
 
|
 
|
 +
|PENDING
 
|
 
|
 +
|MS / LS
 
|
 
|
−
|
+
|Named based on GTS5 book
−
|
 
−
|
 
−
|
 
−
|
 
 
|-
 
|-
 
|[[GTS5:Gastric_Adenocarcinoma_and_Proximal_Polyposis_of_Stomach_-_GAPPS_(APC_promoter)|Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]]
 
|[[GTS5:Gastric_Adenocarcinoma_and_Proximal_Polyposis_of_Stomach_-_GAPPS_(APC_promoter)|Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]]
Line 561: Line 288:
 
|
 
|
 
|
 
|
−
|
+
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
 
|[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]
 
|[[GTS5:Hereditary_gastric_and_breast_cancer_syndrome_(CDH1,_CTNNA1)|Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]
Line 572: Line 299:
 
|
 
|
 
|
 
|
−
|
+
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
 
|[[GTS5:Hereditary_mixed_polyposis_syndrome_(GREM1)|Hereditary mixed polyposis syndrome (GREM1)]]
 
|[[GTS5:Hereditary_mixed_polyposis_syndrome_(GREM1)|Hereditary mixed polyposis syndrome (GREM1)]]
Line 727: Line 454:
 
|
 
|
 
|
 
|
 +
|-
 +
|CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 
|-
 
|-
 
|[[GTS5:Von_Hippel-Lindau_syndrome_(VHL)|Von Hippel-Lindau syndrome (VHL)]]
 
|[[GTS5:Von_Hippel-Lindau_syndrome_(VHL)|Von Hippel-Lindau syndrome (VHL)]]
Line 771: Line 518:
 
|
 
|
 
|
 
|
 +
|-
 +
|CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 
|-
 
|-
 
|[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]]
 
|[[GTS5:Li-Fraumeni_syndrome_(TP53)|Li-Fraumeni syndrome (TP53)]]
Line 781: Line 548:
 
|
 
|
 
|
 
|
−
|
+
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
 
|[[GTS5:Retinoblastoma_syndrome_(RB1)|Retinoblastoma syndrome (RB1)]]
 
|[[GTS5:Retinoblastoma_syndrome_(RB1)|Retinoblastoma syndrome (RB1)]]
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|
 
|
 
|-
 
|-
−
|[[GTS5:Lynch_Syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)]]
+
|CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
−
|Disease
+
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|-
 
|-
−
|[[GTS5:Muir-Torre_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)]]
+
|[[GTS5:Lynch_Syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)]]
 
|Disease
 
|Disease
 
|
 
|
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|
 
|
 
|-
 
|-
−
|[[GTS5:Constitutional_mismatch_repair_deficiency_(CMMRD)_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)]]
+
|[[GTS5:Muir-Torre_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)]]
 
|Disease
 
|Disease
 
|
 
|
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|
 
|
 
|-
 
|-
−
|[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]
+
|[[GTS5:Constitutional_mismatch_repair_deficiency_(CMMRD)_syndrome_(MLH1,_PMS2,_MSH2,_MSH6)|Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)]]
 
|Disease
 
|Disease
 +
|Jennie Thurston
 +
|7/2/2023
 
|
 
|
 +
|PENDING
 
|
 
|
 +
|LS
 
|
 
|
 +
|Named based on GTS5 book
 +
|-
 +
|[[GTS5:BRCA-related_cancer_predisposition_syndrome_(BRCA1,_BRCA2)|BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]
 +
|Disease
 +
|Constance Albarracin / Katherine Geiersbach
 
|
 
|
 
|
 
|
 +
|PENDING
 
|
 
|
 +
|Katherine Geiersbach
 
|
 
|
−
|
+
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
 
|[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]]
 
|[[GTS5:PALB2-related_cancer_predisposition_syndrome_(PALB2)|PALB2-related cancer predisposition syndrome (PALB2)]]
 
|Disease
 
|Disease
 +
|Constance Albarracin / Katherine Geiersbach / Jun Liao
 
|
 
|
 
|
 
|
 +
|PENDING
 
|
 
|
 +
|Katherine Geiersbach
 
|
 
|
−
|
+
|Named based on GTS5 book (page created 12/30/23)
−
|
 
−
|
 
−
|
 
 
|-
 
|-
 
|[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]]
 
|[[GTS5:RAD51-related_cancer_predisposition_syndrome_(RAD51C,_RAD51D)|RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]]
Line 961: Line 748:
 
|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
 
|[[GTS5:Ataxia-telangiectasia_syndrome_(ATM)|Ataxia-telangiectasia syndrome (ATM)]]
 
|Disease
 
|Disease
 +
|Evin Gulbahce / Katherine Geiersbach
 
|
 
|
 
|
 
|
 +
|PENDING
 
|
 
|
 +
|Katherine Geiersbach
 
|
 
|
−
|
+
|Named based on GTS5 book (page created 12/30/23)
−
|
 
−
|
 
−
|
 
 
|-
 
|-
 
|[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
 
|[[GTS5:CHEK2-related_hereditary_(breast)_cancer_predisposition_syndrome_(CHEK2)|CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]
Line 979: Line 766:
 
|
 
|
 
|
 
|
−
|
+
|Named based on GTS5 book (page created 12/30/23)
 
|-
 
|-
 
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
 
|[[GTS5:Nijmegen_breakage_syndrome_(NBN)|Nijmegen breakage syndrome (NBN)]]
Line 1,090: Line 877:
 
|
 
|
 
|
 
|
 +
|-
 +
|CHAPTER 6 (TELOMERE MAINTENANCE)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 
|-
 
|-
 
|[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]]
 
|[[GTS5:Dyskeratosis_congenita_(DKC1,_TERT,_TERC,_TINF2,_Other_IBMFS_genes)|Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]]
Line 1,112: Line 919:
 
|
 
|
 
|
 
|
 +
|-
 +
|CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 
|-
 
|-
 
|[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]
 
|[[GTS5:Beckwith-Wiedemann_spectrum_(IGF2;_CDKN1C)|Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]
Line 1,179: Line 1,006:
 
|
 
|
 
|-
 
|-
−
|[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
+
|CHAPTER 8 (RNA REGULATION)
−
|Disease
+
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 
|
 
|
 +
----<br />
 +
|-
 +
|[[GTS5:DICER1-related_tumour_predisposition_syndrome_(DICER1)|DICER1-related tumour predisposition syndrome (DICER1)]]
 +
|Disease
 +
|Jennie Thurston
 +
|7/2/2023
 +
|
 +
|PENDING
 +
|
 +
|LS
 +
|
 +
|Named based on GTS5 book
 
|-
 
|-
 
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
 
|[[GTS5:MicroRNA_processor_tumour_predisposition_syndromes_(DROSHA,_DGCR8)|MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]
Line 1,211: Line 1,058:
 
|
 
|
 
|
 
|
 +
|-
 +
|CHAPTER 9 (PROTEIN REGULATION)
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 +
|
 +
----<br />
 
|-
 
|-
 
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]
 
|[[GTS5:BAP1-related_tumour_predisposition_syndrome_(BAP1)|BAP1-related tumour predisposition syndrome (BAP1)]]

Latest revision as of 13:45, 25 February 2024

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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
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
NF2-related schwannomatosis (NF2) Disease
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
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
Multiple endocrine neoplasia type 1 (MEN1) Disease
Peutz-Jeghers syndrome (STK11) Disease Named based on GTS5 book (page created 12/30/23)
Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1) Disease Named based on GTS5 book (page created 12/30/23)
Hereditary mixed polyposis syndrome (GREM1) Disease
Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161) Disease
SMO-related Curry-Jones syndrome (SMO) Disease
ELP1-related medulloblastoma predisposition syndrome(ELP1) Disease
Osteochondromatosis (EXT1, EXT2) Disease
Brooke-Spiegler syndrome (CYLD) Disease
Tuberous sclerosis (TSC1, TSC1) Disease
PTEN hamartoma tumour syndrome (PTEN) Disease
Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD) Disease
Multiple endocrine neoplasia type 5, MAX related tumours (MAX) Disease
MAFA-related familial insulinomatosis (MAFA) Disease
Birt-Hogg-Dube syndrome (FLCN) Disease
Familial chordoma (TBXT) Disease
Hyperparathyroidism jaw tumour syndrome (CDC73) Disease
CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)









Von Hippel-Lindau syndrome (VHL) Disease
SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2) Disease
Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH) Disease
Hereditary tyrosinaemia type 1 (FAH) Disease
CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)









Li-Fraumeni syndrome (TP53) Disease Named based on GTS5 book (page created 12/30/23)
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
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
BRCA-related cancer predisposition syndrome (BRCA1, BRCA2) Disease Constance Albarracin / Katherine Geiersbach PENDING Katherine Geiersbach Named based on GTS5 book (page created 12/30/23)
PALB2-related cancer predisposition syndrome (PALB2) Disease Constance Albarracin / Katherine Geiersbach / Jun Liao PENDING Katherine Geiersbach Named based on GTS5 book (page created 12/30/23)
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D) Disease
Fanconi anaemia (FANC genes) Disease
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 PENDING Katherine Geiersbach Named based on GTS5 book (page created 12/30/23)
CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2) Disease Named based on GTS5 book (page created 12/30/23)
Nijmegen breakage syndrome (NBN) Disease
Polymerase proofreading-associated polyposis (POLD1, POLE) Disease
Bloom syndrome (BLM) Disease
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
Turner syndrome Disease
Down syndrome Disease
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
MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8) Disease
Goldenhar syndrome (MYT1, SF3B2) Disease
CHAPTER 9 (PROTEIN REGULATION)









BAP1-related tumour predisposition syndrome (BAP1) Disease


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