Disease |
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Author
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Date Assigned to Author
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Target Completion Date
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Author Content (Pending or Complete)
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Date Completed by Author |
Associate Editor
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Date of Last Editor Review
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Notes
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CHAPTER 2 (GROWTH FACTOR RECEPTORS AND RELATED SIGNALLING PATHWAYS)
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Hereditary papillary renal carcinoma (MET)
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Disease
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Multiple endocrine neoplasia type 2 (RET)
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Disease
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Juvenile polyposis syndrome (BMPR1A, SMAD4)
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Disease
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Hereditary neuroblastoma (ALK, PHOX2B)
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Disease
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Encephalocraniocutaneous lipomatosis (FGFR1)
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Disease
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Glucagon cell hyperplasia and neoplasia (GCGR)
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Disease
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McCune-Albright syndrome (GNAS)
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Disease
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Sturge-Weber syndrome (GNAQ)
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Disease
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Neurofibromatosis type 1 (NF1)
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Disease
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Ngoni Faya (trainee) + Madina Sukhanova
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7/12/2023
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PENDING
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Madina Sukhanova (Madina S)
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Named based on GTS5 book
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NF2-related schwannomatosis (NF2)
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Disease
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Costello syndrome (HRAS)
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Disease
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Noonan syndrome (Various genes)
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Disease
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Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)
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Disease
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Carney complex (PRKAR1A, PDE8B, PDE11A)
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Disease
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PROS syndrome (PIK3CA)
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Disease
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Familial adenomatous polyposis (APC)
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Disease
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Jennifer Laffin
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8/20/2023
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PENDING
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MS / LS
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Named based on GTS5 book
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Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)
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Disease
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AXIN2-associated polyposis (AXIN2)
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Disease
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Serrated polyposis (RNF43)
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Disease
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WT1 related tumour predisposition syndrome (WT1)
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Disease
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WAGR syndrome (WT1)
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Disease
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Kathleen Bone
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7/12/2024
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PENDING
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Eric McGinnis
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Named based on GTS5 book (page created 7/12/24)
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Multiple endocrine neoplasia type 1 (MEN1)
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Disease
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Peutz-Jeghers syndrome (STK11)
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Disease
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Named based on GTS5 book (page created 12/30/23)
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Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)
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Disease
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Named based on GTS5 book (page created 12/30/23)
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Hereditary mixed polyposis syndrome (GREM1)
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Disease
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Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)
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Disease
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SMO-related Curry-Jones syndrome (SMO)
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Disease
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ELP1-related medulloblastoma predisposition syndrome(ELP1)
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Disease
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Osteochondromatosis (EXT1, EXT2)
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Disease
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Brooke-Spiegler syndrome (CYLD)
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Disease
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Tuberous sclerosis (TSC1, TSC1)
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Disease
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PTEN hamartoma tumour syndrome (PTEN)
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Disease
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Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD)
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Disease
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Multiple endocrine neoplasia type 5, MAX related tumours (MAX)
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Disease
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MAFA-related familial insulinomatosis (MAFA)
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Disease
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Birt-Hogg-Dube syndrome (FLCN)
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Disease
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Familial chordoma (TBXT)
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Disease
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Hyperparathyroidism jaw tumour syndrome (CDC73)
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Disease
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CHAPTER 3 (OXIDATIVE STRESS RESPONSE AND METABOLISM)
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Von Hippel-Lindau syndrome (VHL)
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Disease
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Lakshmi Chandramohan
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6/24/24
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PENDING
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Named based on GTS5 book (page created 6/24/24)
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SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2)
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Disease
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Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)
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Disease
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Hereditary tyrosinaemia type 1 (FAH)
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Disease
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CHAPTER 4 (CELL CYCLE AND APOPTOSIS PATHWAYS)
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Li-Fraumeni syndrome (TP53)
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Disease
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Lakshmi Chandramohan
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6/24/24
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PENDING
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Named based on GTS5 book (page created 12/30/23)
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Retinoblastoma syndrome (RB1)
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Disease
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Multiple endocrine neoplasia type 4 (CDKN1B)
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Disease
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CDKN2A-related tumour predisposition syndrome (CDKN2A)
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Disease
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CDK4-related melanoma predisposition syndrome (CDK4)
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Disease
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Autoimmune lymphoproliferative syndrome (FAS)
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Disease
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CHAPTER 5 (DNA REPAIR AND GENOMIC STABILITY)
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Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)
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Disease
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Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)
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Disease
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Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)
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Disease
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Jennie Thurston
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7/2/2023
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PENDING
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LS
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Named based on GTS5 book
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BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)
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Disease
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Constance Albarracin / Katherine Geiersbach
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PENDING
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Katherine Geiersbach
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Named based on GTS5 book (page created 12/30/23)
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PALB2-related cancer predisposition syndrome (PALB2)
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Disease
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Constance Albarracin / Katherine Geiersbach / Jun Liao
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PENDING
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Katherine Geiersbach
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Named based on GTS5 book (page created 12/30/23)
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RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)
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Disease
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Fanconi anaemia (FANC genes)
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Disease
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Nada Assaf
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6/11/2024
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PENDING
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Eric McGinnis
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Named based on GTS5 book
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MUTYH-associated polyposis (MUTYH)
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Disease
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NTHL1-related tumour syndrome (NTHL1)
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Disease
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MBD4-associated neoplasia syndrome (MBD4)
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Disease
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Xeroderma Pigmentosum
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Disease
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Ataxia-telangiectasia syndrome (ATM)
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Disease
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Evin Gulbahce / Katherine Geiersbach
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PENDING
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Katherine Geiersbach
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Named based on GTS5 book (page created 12/30/23)
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CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)
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Disease
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Named based on GTS5 book (page created 12/30/23)
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Nijmegen breakage syndrome (NBN)
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Disease
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Polymerase proofreading-associated polyposis (POLD1, POLE)
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Disease
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Bloom syndrome (BLM)
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Disease
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Nada Assaf
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6/11/2024
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PENDING
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Xiaolin (Lynn) Hu
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Named based on GTS5 book
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Werner syndrome (WRN)
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Disease
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Rothmund-Thomson syndrome (ANAPC1, RECQL4)
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Disease
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DDX41-related haematologic tumour predisposition syndrome (DDX41)
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Disease
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Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)
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Disease
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Klinefelter syndrome
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Disease
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Kathleen Bone
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7/12/2024
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PENDING
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Eric McGinnis
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Named based on GTS5 book (page created 7/12/24)
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Turner syndrome
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Disease
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Kathleen Bone
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7/12/2024
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PENDING
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Eric McGinnis
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Named based on GTS5 book (page created 7/12/24)
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Down syndrome
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Disease
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Kathleen Bone
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7/12/2024
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PENDING
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Eric McGinnis
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Named based on GTS5 book (page created 7/12/24)
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CHAPTER 6 (TELOMERE MAINTENANCE)
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Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)
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Disease
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POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)
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Disease
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CHAPTER 7 (EPIGENETIC DRIVERS AND CHROMATIN REMODELLING)
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Beckwith-Wiedemann spectrum (IGF2; CDKN1C)
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Disease
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Enchondromatosis (IDH1, IDH2)
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Disease
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Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)
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Disease
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Schwannomatosis (SMARCB1, LZTR1)
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Disease
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Clear cell meningioma predisposition syndrome (SMARCE1)
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Disease
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Weaver syndrome (EZH2)
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Disease
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CHAPTER 8 (RNA REGULATION)
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DICER1-related tumour predisposition syndrome (DICER1)
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Disease
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Jennie Thurston
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7/2/2023
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PENDING
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LS
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Named based on GTS5 book
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MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)
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Disease
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Goldenhar syndrome (MYT1, SF3B2)
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Disease
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CHAPTER 9 (PROTEIN REGULATION)
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BAP1-related tumour predisposition syndrome (BAP1)
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Disease
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