Genetic Tumour Syndromes
Growth factor receptors and related signalling pathways
Growth factor receptors
Hereditary papillary renal carcinoma
MET
MEN2
RET
Juvenile polyposis syndrome
BMPR1A
SMAD4
EGFR-related lung cancer predisposition syndrome
EGFR
EGFR p.T790M
Hereditary neuroblastoma
ALK
FOXR2
Encephalocraniocutaneous lipomatosis (MIM #613001)
FGFR1
G-coupled proteins
Glucagon cell hyperplasia and neoplasia
GPCR
McCune Albright syndrome
GNAS
Sturge-Weber syndrome
GNAQ
Haematologic signalling pathways
BTK-related tumour predisposition syndrome
BTK
SAMD9-related haematologic tumour predisposition syndrome (MIRAGE)
SAMD9
SAMD9L
RAS-MAPK pathway
Neurofibromatosis type 1
NF1
NF2-related schwannomatosis (previously neurofibromatosis type 2)
NF2
Costello syndrome
HRAS
Noonan syndrome
Various
Schimmelpenning-Feuerstein-Mims (MIM #163200)
HRAS and 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
Denys-Drash syndrome
WT1
WAGR syndrome
WT1
TRIM28-related Wilms tumour
TRIM28
MEN1
MEN1
Peutz-Jeghers syndrome
STK11
Diffuse gastric cancer and lobular breast cancer syndrome
CDH1
CTNNA1
Hereditary mixed polyposis syndrome
GREM1
Hedgehog signalling pathway
Naevoid basal cell carcinoma syndrome (Gorlin syndrome)
PTCH1
SUFU
GPR161
Curry-Jones syndrome
SMO
ELP1-related medulloblastoma predisposition syndrome
ELP1
Osteochondromatosis
EXT1
EXT2
NF-kB signalling pathway
Brooke-Spiegler syndrome
CYLD
MTOR pathway
Tuberous sclerosis
TSC1
TSC2
PTEN hamartoma tumour syndrome
PTEN
Transcription factors
MEN5 (MAX related tumours)
MAX
MAFA related familial insulinomatosis
MAFA
Birt-Hogg-Dube
FLCN
CEBPA-related haematologic tumour predisposition syndrome
CEBPA
Hereditary thrombocytopenia and haematologic cancer predisposition syndrome
RUNX1
ETV6-related haematologic tumour predisposition syndrome
ETV6
GATA2-related haematologic tumour predisposition syndrome
GATA2
PAX5-related haematologic tumour predisposition syndrome
PAX5
IKZF1-related haematologic tumour predisposition syndrome
IKZF1
Familial chordoma
TBXT (Brachyury)
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
Tyrosinaemia
FAH
Cell cycle and apoptosis pathways
P53 pathway
Li Fraumeni
TP53
Hyperparathyroidism jaw tumour syndrome
CDC73
RB pathway
Retinoblastoma syndrome
RB1
MEN4
CDKN1B
CDKN2A related tumour predisposition syndrome
CDKN2A
CDK4-related melanoma predisposition syndrome
CDK4
Beckwith-Wiedemann syndrome
CDKN1C
IGF2
DNA repair and genomic stability
Mismatch repair
Lynch Syndrome
Muir-Torre syndrome
MLH1
PMS2
MSH2
MSH6
Constitutional mismatch repair deficiency (CMMRD) syndrome
Homologous recombination
BRCA pathway-related hereditary cancer syndrome
BRCA1
BRCA2
PALB2-related cancer syndrome - MERGE with BRCA
PALB2
RAD51C
RAD51D
Fanconi anaemia
FANC genes
Base excision repair genes
MUTYH-associated polyposis
MUTYH
NTHL1-related tumour syndrome
NTHL1
MBD4-related tumour predisposition syndrome
MBD4
Deficient nucleotide excision repair (NER) of DNA damage
Xeroderma Pigmentosum
XPA
XPB
XPC
XPD
XPE
XPF
XPG
XPV
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
DDX1-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
Telomere maintenance
Telomere maintenance
Dyskeratosis congenita
DKC1
TERT
TERC
TINF2
Other IBMFS genes
POT1 and Shelterin-related tumour predisposition syndrome
POT1
ACD
TERF2IP
TERT promoter
Epigenetic drivers and chromatin remodelling
Histone and DNA methylation
Enchondromatosis
IDH1
IDH2
Chromatin remodelling pathway
Rhabdoid tumour predisposition syndrome
SMARCB1
SMARCA4
Schwannomatosis
SMARCB1
LZTR1
Meningioma susceptibilty syndrome
SMARCE1
Weaver syndrome
EZH2
RNA regulation
MicroRNA
DICER1 syndrome
DICER1
Microprocessor syndrome
DROSHA
DGCR8
RNA splicing
Goldenhar syndrome
MYT1
SF3B2
Protein regulation
Ubiquitin pathway
BAP1-related tumour predisposition syndrome
BAP1