Genetic tumour syndromes

2. Growth factor receptors and related signalling pathways

Growth factor receptors

Hereditary papillary renal carcinoma (MET)

Multiple endocrine neoplasia type 2 (RET)

Juvenile polyposis syndrome (BMPR1A, SMAD4)

Hereditary neuroblastoma (ALK, PHOX2B)

Encephalocraniocutaneous lipomatosis (FGFR1)

G-coupled protein receptor pathway

Glucagon cell hyperplasia and neoplasia (GCGR)

McCune-Albright syndrome (GNAS)

Sturge-Weber syndrome (GNAQ)

RAS-MAPK pathway

Neurofibromatosis type 1 (NF1)

NF2-related schwannomatosis (NF2)

Costello syndrome (HRAS)

Noonan syndrome (Various genes)

Schimmelpenning-Feuerstein-Mims (HRAS, KRAS)

PKA signalling pathway

Carney complex (PRKAR1A, PDE8B, PDE11A)

PROS syndrome (PIK3CA)

WNT/TGFbeta pathway

Familial adenomatous polyposis (APC)

Gastric Adenocarcinoma and Proximal Polyposis of Stomach - GAPPS (APC promoter)

AXIN2-associated polyposis (AXIN2)

Serrated polyposis (RNF43)

WT1 related tumour predisposition syndrome (WT1)

WAGR syndrome (WT1)

Multiple endocrine neoplasia type 1 (MEN1)

Peutz-Jeghers syndrome (STK11)

Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)

Hereditary mixed polyposis syndrome (GREM1)

Hedgehog signalling pathway

Naevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, GPR161)

SMO-related Curry-Jones syndrome (SMO)

ELP1-related medulloblastoma predisposition syndrome(ELP1)

Osteochondromatosis (EXT1, EXT2)

NF-kB signalling pathway

Brooke-Spiegler syndrome (CYLD)

MTOR and PI3K pathway

Tuberous sclerosis (TSC1, TSC1)

PTEN hamartoma tumour syndrome (PTEN)

Activated Phosphatidylinositol-3-OH kinase δ Syndrome - APDS (PIK3CD)

Transcription factors and regulators

Multiple endocrine neoplasia type 5, MAX related tumours (MAX)

MAFA-related familial insulinomatosis (MAFA)

Birt-Hogg-Dube syndrome (FLCN)

Familial chordoma (TBXT)

Hyperparathyroidism jaw tumour syndrome (CDC73)

3. Oxidative stress response and metabolism

Angiogenesis

Von Hippel-Lindau syndrome (VHL)

Krebs cycle

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

Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)

Toxic metabolite-mediated disorders

Hereditary tyrosinaemia type 1 (FAH)

4. Cell cycle and apoptosis pathways

P53 pathway

Li-Fraumeni syndrome (TP53)

RB pathway

Retinoblastoma syndrome (RB1)

Multiple endocrine neoplasia type 4 (CDKN1B)

CDKN2A-related tumour predisposition syndrome (CDKN2A)

CDK4-related melanoma predisposition syndrome (CDK4)

FAS pathway

Autoimmune lymphoproliferative syndrome (FAS)

5. DNA repair and genomic stability

Mismatch repair

Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)

Muir-Torre syndrome (MLH1, PMS2, MSH2, MSH6)

Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)

Homologous recombination

BRCA-related cancer predisposition syndrome (BRCA1, BRCA2)

PALB2-related cancer predisposition syndrome (PALB2)

RAD51-related cancer predisposition syndrome (RAD51C, RAD51D)

Fanconi anaemia (FANC genes)

Base excision repair genes

MUTYH-associated polyposis (MUTYH)

NTHL1-related tumour syndrome (NTHL1)

MBD4-associated neoplasia syndrome (MBD4)

Deficient nucleotide excision repair (NER) of DNA damage

Xeroderma Pigmentosum

Non-homologous end joining (NHEJ)

Ataxia-telangiectasia syndrome (ATM)

CHEK2-related hereditary (breast) cancer predisposition syndrome (CHEK2)

Nijmegen breakage syndrome (NBN)

DNA Polymerization

Polymerase proofreading-associated polyposis (POLD1, POLE)

Helicases

Bloom syndrome (BLM)

Werner syndrome (WRN)

Rothmund-Thomson syndrome (ANAPC1, RECQL4)

DDX41-related haematologic tumour predisposition syndrome (DDX41)

Chromosomal non-dysjunction (aneuploidy) syndromes

Mosaic variegated aneuploidy (BUB1B, CEP57, TRIP13, BUB1, BUB3)

Klinefelter syndrome

Turner syndrome

Down syndrome

6. Telomere maintenance

Telomere biology disorders

Dyskeratosis congenita (DKC1, TERT, TERC, TINF2, Other IBMFS genes)

POT1 and Shelterin-related tumour predisposition syndrome (POT1, ACD, TERF2IP, TERT promoter)

7. Epigenetic drivers and chromatin remodelling

Imprinting disorders

Beckwith-Wiedemann spectrum (IGF2; CDKN1C)

Histone and DNA methylation

Enchondromatosis (IDH1, IDH2)

Chromatin remodelling pathway

Rhabdoid tumour predisposition syndrome (SMARCB1, SMARCA4)

Schwannomatosis (SMARCB1, LZTR1)

Clear cell meningioma predisposition syndrome (SMARCE1)

Weaver syndrome (EZH2)

8. RNA regulation

MicroRNA

DICER1-related tumour predisposition syndrome (DICER1)

MicroRNA processor tumour predisposition syndromes (DROSHA, DGCR8)

RNA splicing

Goldenhar syndrome (MYT1, SF3B2)

9. Protein regulation

Ubiquitin pathway

BAP1-related tumour predisposition syndrome (BAP1)