p53 pathway

Li-Fraumeni syndrome (TP53)

RB pathway

Retinoblastoma syndrome (RB1)

Multiple endocrine neoplasia type 4 (CDKN1B)

CDKN2A-related tumor predisposition syndrome (CDKN2A)

CDK4-related melanoma predisposition syndrome (CDK4)

FAS pathway

Autoimmune lymphoproliferative syndrome (FAS)

Mismatch repair

Lynch Syndrome (MLH1, PMS2, MSH2, MSH6)

Muir-Torre syndrome (MLH1, PMS2, MSHS2, 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 anemia (FANC genes)

Base excision repair genes

MUTYH-associated polyposis (MUTYH)

NTHL1-related tumor 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 hematologic tumor predisposition syndrome (DDX41)

Chromosomal non-dysjunction (aneuploidy) syndromes

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

Klinefelter syndrome

Turner syndrome

Down syndrome

Imprinting disorders

Beckwith-Wiedemann spectrum (IGH2; CDKN1C)

Histone and DNA methylation

Enchondromatosis (IDH1, IDH2)

Chromatin remodelling pathway

Rhabdoid tumor predisposition syndrome (SMARCB1, SMARCA4)

Schwannomatosis (SMARCB1, LZTR1)

Clear cell meningioma predisposition syndrome (SMARCE1)

Weaver syndrome

Growth factor receptors

Hereditary papillary renal carcinoma (MET)

Multiple endocrine neoplastia 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 tumor 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

Nevoid basal cell carcinoma syndrome - Gorlin syndrome (PTCH1, SUFU, PGR161)

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, TSC2)

PTEN hamartoma tumor syndrome (PTEN)

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

Transcription factors and regulators

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

MAFA-related familial insulinomatosis (MAFA)

Birt-Hogg-Dube syndrome (FLCN)

Familial chordoma (TBXT)

Hyperparathyroidism jaw tumor syndrome (CDC73)

Angiogenesis

Von Hippel-Lindau syndrome

Krebs Cycle

SDH-deficient tumor syndrome- Hereditary pheochromocytoma-paraganglioma syndroms (SDHA, SDHB, SDHC, SDHD, SDHAF2)

Hereditary leiomyomatosis and renal cell carcinoma syndrome (FH)

Toxic metabolite-mediated disorders

Hereditary tyrosinemia type 1 (FAH)

Ubiquitin pathway

BAP1-related tumor predisposition syndrome (BAP1)

MicroRNA

DICER1-related tumor predisposition syndrome (DICER1)

MicroRNA processor tumor predisposition syndromes (DROSHA, DGCR8)

RNA splicing

Goldenhar syndrome (MYT1, SF3B2)

Telomere biology disorders

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

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