Table 1. Selected Syndromes of Inherited Cancer Predispositiona
| Syndrome | Major Tumor Types | Affected Gene | Mode of Inheritance |
| Adenomatous polyposis of the colon | Colon, hepatoblastoma, intestinal cancers, stomach, thyroid cancer | APC | Dominant |
| Ataxia-telangiectasia | Leukemia, lymphoma | ATM | Recessive |
| Beckwith-Wiedemann syndrome | Adrenal carcinoma, hepatoblastoma, rhabdomyosarcoma, Wilms tumor | CDKN1C/NSD1 | Dominant |
| Bloom syndrome | Leukemia, lymphoma, skin cancer | BLM | Recessive |
| Fanconi anemia | Gynecological tumors, leukemia, squamous cell carcinoma | FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG | Recessive |
| Juvenile polyposis syndrome | Gastrointestinal tumors | SMAD4/DPC4 | Dominant |
| Li-Fraumeni syndrome | Adrenocortical carcinoma, brain tumor, breast carcinoma, leukemia, osteosarcoma, soft tissue sarcoma | TP53 | Dominant |
| Multiple endocrine neoplasia 1 | Pancreatic islet cell tumor, parathyroid adenoma, pituitary adenoma | MEN1 | Dominant |
| Multiple endocrine neoplasia 2 | Medullary thyroid carcinoma, pheochromocytoma | RET | Dominant |
| Neurofibromatosis type 1 | Neurofibroma, optic pathway glioma, peripheral nerve sheath tumor | NF1 | Dominant |
| Neurofibromatosis type 2 | Vestibular schwannoma | NF2 | Dominant |
| Nevoid basal cell carcinoma syndrome | Basal cell carcinoma, medulloblastoma | PTCH | Dominant |
| Peutz-Jeghers syndrome | Intestinal cancers, ovarian carcinoma, pancreatic carcinoma | STK11 | Dominant |
| Retinoblastoma | Osteosarcoma, retinoblastoma | RB1 | Dominant |
| Tuberous sclerosis | Hamartoma, renal angiomyolipoma, renal cell carcinoma | TSC1/TSC2 | Dominant |
| von Hippel-Lindau syndrome | Hemangioblastoma, pheochromocytoma, renal cell carcinoma, retinal and central nervous tumors | VHL | Dominant |
| WAGR syndrome | Gonadoblastoma, Wilms tumor | WT1 | Dominant |
| Wilms tumor syndrome | Wilms tumor | WT1 | Dominant |
| Xeroderma pigmentosum | Leukemia, melanoma | XPA, XPB, XPC, XPD, XPE, XPF, XPG, POLH | Recessive |
| WAGR = Wilms tumor, aniridia, genitourinary anomalies, mental retardation. | |||
| aAdapted from Strahm et al.[50] |
References
- Strahm B, Malkin D: Hereditary cancer predisposition in children: genetic basis and clinical implications. Int J Cancer 119 (9): 2001-6, 2006. [PUBMED Abstract]
