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Table 1. Selected Syndromes of Inherited Cancer Predispositiona

Syndrome Major Tumor Types Affected Gene Mode of Inheritance 
Adenomatous polyposis of the colonColon, hepatoblastoma, intestinal cancers, stomach, thyroid cancerAPC Dominant
Ataxia-telangiectasiaLeukemia, lymphomaATM Recessive
Beckwith-Wiedemann syndromeAdrenal carcinoma, hepatoblastoma, rhabdomyosarcoma, Wilms tumorCDKN1C/NSD1 Dominant
Bloom syndromeLeukemia, lymphoma, skin cancerBLM Recessive
Diamond-Blackfan anemiaColon cancer, osteogenic sarcoma, AML/MDSRPS19 and other RP genesDominant, spontaneousb
Fanconi anemiaGynecological tumors, leukemia, squamous cell carcinomaFANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG Recessive
Juvenile polyposis syndromeGastrointestinal tumorsSMAD4/DPC4 Dominant
Li-Fraumeni syndromeAdrenocortical carcinoma, brain tumor, breast carcinoma, leukemia, osteosarcoma, soft tissue sarcomaTP53 Dominant
Multiple endocrine neoplasia 1Pancreatic islet cell tumor, parathyroid adenoma, pituitary adenomaMEN1 Dominant
Multiple endocrine neoplasia 2Medullary thyroid carcinoma, pheochromocytomaRET Dominant
Neurofibromatosis type 1Neurofibroma, optic pathway glioma, peripheral nerve sheath tumorNF1 Dominant
Neurofibromatosis type 2Vestibular schwannomaNF2 Dominant
Nevoid basal cell carcinoma syndromeBasal cell carcinoma, medulloblastomaPTCH Dominant
Peutz-Jeghers syndromeIntestinal cancers, ovarian carcinoma, pancreatic carcinomaSTK11 Dominant
RetinoblastomaOsteosarcoma, retinoblastomaRB1 Dominant
Tuberous sclerosisHamartoma, renal angiomyolipoma, renal cell carcinomaTSC1/TSC2 Dominant
von Hippel-Lindau syndromeHemangioblastoma, pheochromocytoma, renal cell carcinoma, retinal and central nervous tumorsVHL Dominant
WAGR syndromeGonadoblastoma, Wilms tumorWT1 Dominant
Wilms tumor syndromeWilms tumorWT1 Dominant
Xeroderma pigmentosumLeukemia, melanomaXPA, XPB, XPC, XPD, XPE, XPF, XPG, POLH Recessive

AML = acute myeloid leukemia; MDS = myelodysplastic syndromes; WAGR = Wilms tumor, aniridia, genitourinary anomalies, mental retardation.
aAdapted from Strahm et al.[60]
bDominant in a fraction of patients, spontaneous mutations can occur.


  1. Strahm B, Malkin D: Hereditary cancer predisposition in children: genetic basis and clinical implications. Int J Cancer 119 (9): 2001-6, 2006.  [PUBMED Abstract]