Table 1. List of cancer predisposition syndromes
Cancer predisposition syndrome (CPS)Associated gene(s) (CPG)
DNA repair disorders
Ataxia telangiectasia ATM
Bloom syndrome BLM
Fanconi anemia FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1/BACH1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/XPF/ERCC4, FANCR/RAD51, FANCES/BRCA1, FANCT/UBE2T, FANCU/XRCC2, REV7/MAD2L2
Nijmegen breakage syndrome NBN
Rothmund–Thomson syndrome RECQL4
Xeroderma pigmentosumDDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Li‐Fraumeni syndrome TP53
Constitutional mismatch repair deficiency MLH1, MSH2, MSH6, PMS2, EPCAM
Bone marrow failure/leukemia predisposing syndromes
Severe congenital neutropenia (Kostmann syndrome) ELANE, HAX1
Constitutional thrombocytopeniaANKRD26
MIRAGE syndromeSAMD9
Ataxia‐pancytopenia syndromeSAMD9L
Familial AML with mutated DDX41 DDX41
Congenital thrombocytopenia MECOM
Bone marrow failure syndrome ERCC6L2
Thrombocytopenia and absent radii syndrome
Congenital amegakaryocytic thrombocytopenia type I/II MPL
Transcription factor
Familial platelet disorder with propensity to myeloid malignancy RUNX1
Familial AML CEBPA
GATA2‐spectrum disorders GATA2
Susceptibility to ALL PAX5
Thrombocytopenia ETV6
Ribosomal anomalies
Diamond blackfan anemia RPS7, RPS10, RPS17, RPS19,RPS24, RPS26, RPL5, RPL11, RPL19, RPL35A
Shwachman–Diamond syndrome SBDS
Telomere maintenance
Dyskeratosis congenita DKC1, TERC, TERT, TINF2, NHP2, NOP10, WRAP53
RASopathies
Neurofibromatosis type 1 NF1
Noonan syndrome PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, SHOC2
Noonan syndrome with multiple lentigines PTN11, RAF1
Capillary malformation–arteriovenous malformation syndrome RASA1
Costello syndrome HRAS
Cardio‐facio‐cutaneous syndrome BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2)
Legius syndrome SPRED1
CBL syndrome CBL
Immunodeficiencies (by way of example)
Wiskott–Aldrich syndrome WAS
PMS2 deficiency PMS2
X‐linked lymphoproliferative syndrome SAP, XIAP
IL2‐inducible T‐cell kinase deficiency ITK
Ligase IV syndrome LIG IV
DOCK8 deficiency DOCK8
Cartilage hair hypoplasia RMRP
Familial cancer syndromes
Familial adenomatous polyposis syndrome APC, MUTYH
Juvenile polyposis syndrome SMAD4, BMPR1A
Peutz–Jeghers syndrome STK11
MYTH‐associated polyposis MUTYH
Lynch syndrome type MSH2, MSH6, MLH1, PMS2, EPCAM
Multiple endocrine neoplasia type I MEN1
Multiple endocrine neoplasia type IIA RET
Multiple endocrine neoplasia type IIB RET
Multiple endocrine neoplasia type IV CDKN1B
Von Hippel–Lindau VHL
Hereditary paraganglioma/pheochromocytoma syndrome SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX
Familial thyroid cancer RET, NTRK1
Hyperparathyroidism‐jaw tumor syndrome CDC73
PTEN hamartoma tumor syndrome PTEN
Pleuropulmonary blastoma syndrome DICER1
GLOW syndrome DICER1
Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin syndrome PTCH1, SUFU
Hereditary breast/ovarian cancer BRCA1, CHEK2, ATM, NBS1, RAD51, BRIP1, PALB2
Rubinstein–Taybi syndrome CREBBP, EP300
Schinzel–Giedion syndrome SETBP1
NKX2‐1 syndrome NKX2‐1
Hereditary leiomyomatosis and renal cancer syndrome FH
Tuberous sclerosis complex (TSC) TSC1, TSC2
Hereditary multiple exostoses EXT1, EXT2
Kabuki syndrome KMT2D, KDM6A, MLL2
Birt–Hogg–Dubé syndrome FLCN
Neurofibromatosis type II NF2
Schwannomatosis SMARCB1, LZTR1
Meningeoma predisposition SMARCE1
Non‐syndromic hereditary Wilms tumor WT1, CTR9
Hereditary retinoblastoma RB1
Hereditary neuroblastoma ALK, PHOX2B
Malignant rhabdoid tumor syndrome SMARCB1, SMARCA4
Chromosomal abnormalities
Down syndrome/Trisomy 21
Ullrich–Turner syndrome
Trisomy 18
rob(15;21)(q10;q10)c, ring chromosome 21
Monosomy 7
Congenital/developmental disorders and overgrowth syndromes
Coffin–Siris syndrome SOX11, ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1
Nicolaides–Baraitser syndrome SMARCA2
Bohring–Opitz syndrome ASXL1
Mulibrey nanism TRIM37
Beckwith–Wiedemann syndrome
Hemihypertrophy
Perlman syndrome DIS3L2
Simpson–Golabi–Behmel syndrome GPC3, GPC4
WAGR syndrome
Denys–Drash syndrome WT1
Frasier syndrome WT1
Weaver syndrome EZH2
Sotos syndrome NSD1
Metabolic disorders
Citrullinemia SLC25A13
Ornithine transcarbamylase deficiency OTC
Argininosuccinate lyase deficiencyASL
Arginase deficiency ARG1
Familial pheochromocytoma and paraganglioma syndrome SDHA, SDHB, SDHC, SDHAF2
Cowden syndrome 2 SDHB
Leigh syndrome SDHA, SDHB
L‐2‐hydroxyglutaric aciduria L2HGDH
Tyrosinemia FAH