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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. Also, content in online WHO EYE5.
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. Template added 7/12/24. Also, content in online WHO HAN5, PEDS5, CNS5, DIG5.
Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)	Disease
AXIN2-associated polyposis (AXIN2)	Disease
Serrated polyposis (RNF43)	Disease
WT1 related tumour predisposition syndrome (WT1)	Disease
WAGR syndrome (WT1)	Disease	Kathleen Bone	7/12/2024		PENDING		Eric McGinnis		Named based on GTS5 book (page created 7/12/24). Also, content in online WHO PED5.
Multiple endocrine neoplasia type 1 (MEN1)	Disease
Peutz-Jeghers syndrome (STK11)	Disease								Named based on GTS5 book (page created 7/12/24). Also, content in online WHO MALE5, FEMALE5, BRST5, DIG5,
Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)	Disease								Named based on GTS5 book (page created 7/12/24). Also, content in online WHO BRST5.
Hereditary mixed polyposis syndrome (GREM1)	Disease
Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)	Disease
SMO-related Curry-Jones syndrome (SMO)	Disease
ELP1-related medulloblastoma predisposition syndrome(ELP1)	Disease
Osteochondromatosis (EXT1, EXT2)	Disease
Brooke-Spiegler syndrome (CYLD)	Disease
Tuberous sclerosis (TSC1, TSC1)	Disease
PTEN hamartoma tumour syndrome (PTEN)	Disease
Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD)	Disease
Multiple endocrine neoplasia type 5, MAX related tumours (MAX)	Disease
MAFA-related familial insulinomatosis (MAFA)	Disease
Birt-Hogg-Dube syndrome (FLCN)	Disease
Familial chordoma (TBXT)	Disease
Hyperparathyroidism jaw tumour syndrome (CDC73)	Disease
CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
Von Hippel-Lindau syndrome (VHL)	Disease	Lakshmi Chandramohan	6/24/24		PENDING				Named based on GTS5 book (page created 6/24/24). Also, content in online WHO EYE5, H&N5, ENDO5, MALE5, PED5, CNS5, FEMALE5.
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	Lakshmi Chandramohan	6/24/24		PENDING				Named based on GTS5 book (page created 12/30/23). Also, content in online WHO BRST5, HAN5, PDS5, CNS5, THOR5, FEMA5, STBT5.
Retinoblastoma syndrome (RB1)	Disease
Multiple endocrine neoplasia type 4 (CDKN1B)	Disease
CDKN2A-related tumour predisposition syndrome (CDKN2A)	Disease
CDK4-related melanoma predisposition syndrome (CDK4)	Disease
Autoimmune lymphoproliferative syndrome (FAS)	Disease
CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)	Disease
Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)	Disease
Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)	Disease	Jennie Thurston	7/2/2023		PENDING		LS		Named based on GTS5 book (page created 12/30/23). Also, content in online WHO PEDS5, CNS5.
BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)	Disease	Constance Albarracin / Katherine Geiersbach	12/6/2023	3/6/2024	PENDING		Katherine Geiersbach		Named based on GTS5 book (page created 7/12/24). Also, content in online WHO BRST5, FEMA5.
PALB2-related cancer predisposition syndrome (PALB2)	Disease	Constance Albarracin / Katherine Geiersbach / Jun Liao	12/8/2023	3/8/2024	PENDING		Katherine Geiersbach		Named based on GTS5 book (page created 7/12/24). Also, content in online WHO BRST5.
RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)	Disease
Fanconi anaemia (FANC genes)	Disease	Nada Assaf	6/11/2024		PENDING		Eric McGinnis		Named based on GTS5 book
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	Nada Assaf	6/11/2024		PENDING		Xiaolin (Lynn) Hu		Named based on GTS5 book
Werner syndrome (WRN)	Disease
Rothmund-Thomson syndrome (ANAPC1, RECQL4)	Disease
DDX41-related haematologic tumour predisposition syndrome (DDX41)	Disease
Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)	Disease
Klinefelter syndrome	Disease	Kathleen Bone	7/12/2024		PENDING		Eric McGinnis		Named based on GTS5 book (page created 7/12/24)
Turner syndrome	Disease	Kathleen Bone	7/12/2024		PENDING		Eric McGinnis		Named based on GTS5 book (page created 7/12/24)
Down syndrome	Disease	Kathleen Bone	7/12/2024		PENDING		Eric McGinnis		Named based on GTS5 book (page created 7/12/24)
CHAPTER 6 (TELOMERE MAINTENANCE)
Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)	Disease
POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)	Disease
CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
Beckwith-Wiedemann spectrum (IGF2; CDKN1C)	Disease
Enchondromatosis (IDH1, IDH2)	Disease
Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)	Disease
Schwannomatosis (SMARCB1, LZTR1)	Disease
Clear cell meningioma predisposition syndrome (SMARCE1)	Disease
Weaver syndrome (EZH2)	Disease
CHAPTER 8 (RNA REGULATION)
DICER1-related tumour predisposition syndrome (DICER1)	Disease	Jennie Thurston	7/2/2023		PENDING		LS		Named based on GTS5 book
MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)	Disease
Goldenhar syndrome (MYT1, SF3B2)	Disease
CHAPTER 9 (PROTEIN REGULATION)
BAP1-related tumour predisposition syndrome (BAP1)	Disease