GTS5:Table of Contents: Difference between revisions

==Growth factor receptors and related signalling pathways ([[GTS5:Growth factor receptors and related signalling pathways|Overview Page Link]])==

   - [[GTS5:Hereditary papillary renal carcinoma (MET)]]

   - [[GTS5:Multiple endocrine neoplasia type 2 (RET)]]

   - [[GTS5:Juvenile polyposis syndrome (BMPR1A, SMAD4)]]

   - [[GTS5:Hereditary neuroblastoma (ALK, PHOX2B)]]

   - [[GTS5:Encephalocraniocutaneous lipomatosis (FGFR1)]]

  '''G-coupled protein receptor pathway'''

   - [[GTS5:Glucagon cell hyperplasia and neoplasia (GCGR)]]

   - [[GTS5:McCune-Albright syndrome (GNAS)]]

   - [[GTS5:Sturge-Weber syndrome (GNAQ)]]

  '''RAS-MAPK pathway'''

   - [[GTS5:Neurofibromatosis type 1 (NF1)]]

   - [[GTS5:NF2-related schwannomatosis (NF2)]]

   - [[GTS5:Costello syndrome (HRAS)]]

   - [[GTS5:Noonan syndrome (Various genes)]]

   - [[GTS5:Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)]]

  '''PKA signalling pathway'''

   - [[GTS5:Carney complex (PRKAR1A, PDE8B, PDE11A)]]

   - [[GTS5:PROS syndrome (PIK3CA)]]

  '''WNT/TGFbeta pathway'''

   - [[GTS5:Familial adenomatous polyposis (APC)]]

   - [[GTS5:Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)]]

   - [[GTS5:AXIN2-associated polyposis (AXIN2)]]

   - [[GTS5:Serrated polyposis (RNF43)]]

   - [[GTS5:WT1 related tumour predisposition syndrome (WT1)]]

   - [[GTS5:WAGR syndrome (WT1)]]

   - [[GTS5:Multiple endocrine neoplasia type 1 (MEN1)]]

   - [[GTS5:Peutz-Jeghers syndrome (STK11)]]

   - [[GTS5:Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)]]

   - [[GTS5:Hereditary mixed polyposis syndrome (GREM1)]]

  '''Hedgehog signalling pathway'''

   - [[GTS5:Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)]]

   - [[GTS5:SMO-related Curry-Jones syndrome (SMO)]]

   - [[GTS5:ELP1-related medulloblastoma predisposition syndrome(ELP1)]]

   - [[GTS5:Osteochondromatosis (EXT1, EXT2)]]

  '''NF-kB signalling pathway'''

   - [[GTS5:Brooke-Spiegler syndrome (CYLD)]]

  '''MTOR and PI3K pathway'''

   - [[GTS5:Tuberous sclerosis (TSC1, TSC1)]]

   - [[GTS5:PTEN hamartoma tumour syndrome (PTEN)]]

   - [[GTS5:Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD)]]

   - [[GTS5:Multiple endocrine neoplasia type 5, MAX related tumours (MAX)]]

   - [[GTS5:MAFA-related familial insulinomatosis (MAFA)]]

   - [[GTS5:Birt-Hogg-Dube syndrome (FLCN)]]

   - [[GTS5:Familial chordoma (TBXT)]]

   - [[GTS5:Hyperparathyroidism jaw tumour syndrome (CDC73)]]

==Oxidative stress response and metabolism ([[GTS5:Oxidative stress response and metabolism|Overview Page Link]])==

  '''Angiogenesis'''

   - [[GTS5:Von Hippel-Lindau syndrome (VHL)]]

  '''Krebs cycle'''

   - [[GTS5:SDH-deficient tumour syndrome - Hereditary phaeochromocytoma-paraganglioma syndromes (SDHA, SDHB, SDHC, SDHD, SDHAF2)]]

   - [[GTS5:Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)]]

  '''Toxic metabolite-mediated disorders'''

   - [[GTS5:Hereditary tyrosinaemia type 1 (FAH)]]

==Cell cycle and apoptosis pathways ([[GTS5:Cell cycle and apoptosis pathways|Overview Page Link]])==

  '''P53 pathway'''

   - [[GTS5:Li-Fraumeni syndrome (TP53)]]

  '''RB pathway'''

   - [[GTS5:Retinoblastoma syndrome (RB1)]]

   - [[GTS5:Multiple endocrine neoplasia type 4 (CDKN1B)]]

   - [[GTS5:CDKN2A-related tumour predisposition syndrome (CDKN2A)]]

   - [[GTS5:CDK4-related melanoma predisposition syndrome (CDK4)]]

  '''FAS pathway'''

   - [[GTS5:Autoimmune lymphoproliferative syndrome (FAS)]]

==DNA repair and genomic stability ([[GTS5:DNA repair and genomic stability|Overview Page Link]])==

  '''Mismatch repair'''

   - [[GTS5:Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)]]

   - [[GTS5:Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)]]

   - [[GTS5:Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)]]

  '''Homologous recombination'''

   - [[GTS5:BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)]]

   - [[GTS5:PALB2-related cancer predisposition syndrome (PALB2)]]

   - [[GTS5:RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)]]

   - [[GTS5:Fanconi anaemia (FANC genes)]]

  '''Base excision repair genes'''

   - [[GTS5:MUTYH-associated polyposis (MUTYH)]]

   - [[GTS5:NTHL1-related tumour syndrome (NTHL1)]]

   - [[GTS5:MBD4-associated neoplasia syndrome (MBD4)]]

  '''Deficient nucleotide excision repair (NER) of DNA damage'''

   - [[GTS5:Xeroderma Pigmentosum]]

  '''Non-homologous end joining (NHEJ)'''

   - [[GTS5:Ataxia-telangiectasia syndrome (ATM)]]

   - [[GTS5:CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)]]

   - [[GTS5:Nijmegen breakage syndrome (NBN)]]

  '''DNA Polymerization'''

   - [[GTS5:Polymerase proofreading-associated polyposis (POLD1, POLE)]]

  '''Helicases'''

   - [[GTS5:Bloom syndrome (BLM)]]

   - [[GTS5:Werner syndrome (WRN)]]

   - [[GTS5:Rothmund-Thomson syndrome (ANAPC1, RECQL4)]]

   - [[GTS5:DDX41-related haematologic tumour predisposition syndrome (DDX41)]]

  '''Chromosomal non-dysjunction (aneuploidy) syndromes'''

   - [[GTS5:Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)]]

   - [[GTS5:Klinefelter syndrome]]

   - [[GTS5:Turner syndrome]]

   - [[GTS5:Down syndrome]]

==Telomere maintenance ([[GTS5:Telomere maintenance|Overview Page Link]])==

  '''Telomere biology disorders'''

   - [[GTS5:Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)]]

   - [[GTS5:POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)]]

==Epigenetic drivers and chromatin remodelling ([[GTS5:pigenetic drivers and chromatin remodelling|Overview Page Link]])==

  '''Imprinting disorders'''

   - [[GTS5:Beckwith-Wiedemann spectrum (IGF2; CDKN1C)]]

  '''Histone and DNA methylation'''

   - [[GTS5:Enchondromatosis (IDH1, IDH2)]]

  '''Chromatin remodelling pathway'''

   - [[GTS5:Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)]]

   - [[GTS5:Schwannomatosis (SMARCB1, LZTR1)]]

   - [[GTS5:Clear cell meningioma predisposition syndrome (SMARCE1)]]

   - [[GTS5:Weaver syndrome (EZH2)]]

==RNA regulation ([[GTS5:RNA regulation|Overview Page Link]])==

  '''MicroRNA'''

   - [[GTS5:DICER1-related tumour predisposition syndrome (DICER1)]]

   - [[GTS5:MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)]]

  '''RNA splicing'''

   - [[GTS5:Goldenhar syndrome (MYT1, SF3B2)]]

==Protein regulation ([[GTS5:Protein regulation|Overview Page Link]])==

  '''Ubiquitin pathway'''

   - [[GTS5:BAP1-related tumour predisposition syndrome (BAP1)]]