Table 2.

Selected cancer predisposition syndromes, associated malignancies and genetic alterations[4,5,7,21]

Cancer predisposition syndrome	Associated malignancy¹	Genetic alteration
Ataxia telangiectasia	Lymphoma, leukemia	ATM
Beckwith-Wiedemann syndrome	Wilms’ tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma, adrenocortical carcinoma	IGF-2, CDKN1C
Denys-Drash syndrome	Wilms’ tumor	WT1
Diamond-Blackfan anemia	AML, MDS, colon cancer, female genital cancers, osteosarcoma	RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26
Down syndrome	ALL, AML, MDS, germ cell tumor, retinoblastoma	GATA1, GATA2, IKZF1, JAK2
Familial adenomatous polyposis	Ampullary adenocarcinoma, colorectal cancer, small bowel cancer, stomach cancer, thyroid cancer, pancreatic cancer, hepatoblastoma	APC
Fanconi anemia	AML, MDS, esophageal cancer, head and neck cancer, skin cancer	FANCA, FANCC, FANCG, RAD51C
Gorlin syndrome	Basal cell carcinoma, ependymoma, medulloblastoma, ovarian fibrosarcoma, rhabdomyosarcoma	PTCH1, SUFU, PTCH2
Li Fraumeni syndrome	Adrenocortical carcinoma, ALL, AML, brain tumor, breast cancer, colorectal cancer, neuroblastoma, osteosarcoma, rhabdomyosarcoma, Wilms’ tumor	TP53
Multiple endocrine neoplasia type 1	Ependymoma	MEN1
Multiple endocrine neoplasia type 2	Medullary thyroid cancer	RET
Neurofibromatosis type 1	Malignant peripheral nerve sheath tumor, breast cancer, optic glioma, gastrointestinal stromal tumor, JMML, neuroblastoma, embryonal rhabdomyosarcoma	NF1
Neurofibromatosis type 2	Astrocytoma, ependymoma, glioma	NF2
Von Hippel-Lindau syndrome	Clear cell carcinoma, carcinoid, pancreatic islet cell carcinoma, renal cell carcinoma	VHL
WAGR syndrome	Wilms’ tumor	WT1

Associated nonmalignant tumors are not included in the list. ALL: Acute lymphoblastic leukemia; AML: Acute myeloid leukemia; JMML: Juvenile myelomonocytic leukemia; MDS: Myelodysplastic syndrome; WAGR: Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays.