Description
Cancer predisposition genes (152 genes), curated from the TCGA’s pan-cancer study (Huang et al., Cell, 2018).

68 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
68 Entitiess
Red Red List (low evidence)
ABCB11
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Crigler-Najjar syndrome, type II
Tags
Red Red List (low evidence)
ALK
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Neuroblastoma
Tags
Red Red List (low evidence)
APC
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Familial adenomatous polyposis 1
Tags
Red Red List (low evidence)
ATM
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Ataxia-telangiectasia syndrome
Tags
Red Red List (low evidence)
ATR
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Seckel syndrome
  • Cutaneous telangiectasia and cancer syndrome, familial
Tags
Red Red List (low evidence)
AXIN2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Oligodontia-colorectal cancer syndrome
Tags
Red Red List (low evidence)
BAP1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • BAP1 Cancer Syndrome
  • Tumor susceptibility linked to germline BAP1 mutations
Tags
Red Red List (low evidence)
BLM
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Bloom syndrome
Tags
Red Red List (low evidence)
BMPR1A
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Juvenile polyposis syndrome
Tags
Red Red List (low evidence)
BRAF
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Noonan syndrome 7
  • LEOPARD syndrome 3
Tags
Red Red List (low evidence)
BRCA1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hereditary breast and ovarian cancer syndrome
Tags
Red Red List (low evidence)
BRCA2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group D1
  • Hereditary breast and ovarian cancer syndrome
Tags
Red Red List (low evidence)
BRIP1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group J
Tags
Red Red List (low evidence)
BUB1B
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Mosaic variegated aneuploidy syndrome
Tags
Red Red List (low evidence)
CBL
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Noonan syndrome
Tags
Red Red List (low evidence)
CDC73
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hyperparathyroidism 2
Tags
Red Red List (low evidence)
CDH1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hereditary diffuse gastric cancer
Tags
Red Red List (low evidence)
CDK4
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Cutaneous malignant melanoma 3
  • Hereditary cutaneous melanoma
Tags
Red Red List (low evidence)
CDKN1B
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Multiple endocrine neoplasia, type 4
Tags
Red Red List (low evidence)
CDKN1C
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Beckwith-Wiedemann syndrome
Tags
Red Red List (low evidence)
CDKN2A
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hereditary cutaneous melanoma
Tags
Red Red List (low evidence)
CEBPA
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Acute myeloid leukemia
Tags
Red Red List (low evidence)
CHEK2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Familial cancer of breast
Tags
Red Red List (low evidence)
COL7A1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Epidermolysis bullosa
Tags
Red Red List (low evidence)
CTR9
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
CYLD
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Spiegler-Brooke syndrome
Tags
Red Red List (low evidence)
DDB2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Xeroderma pigmentosum, group E
Tags
Red Red List (low evidence)
DICER1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • DICER1 syndrome
  • Pleuropulmonary blastoma
Tags
Red Red List (low evidence)
DIS3L2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Renal hamartomas nephroblastomatosis and fetal gigantism
Tags
Red Red List (low evidence)
DKC1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Dyskeratosis congenita X-linked
Tags
Red Red List (low evidence)
DOCK8
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Tags
Red Red List (low evidence)
DROSHA
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
EGFR
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
ELANE
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Severe congenital neutropenia autosomal dominant
Tags
Red Red List (low evidence)
EPCAM
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hereditary nonpolyposis colorectal cancer type 8
Tags
Red Red List (low evidence)
ERCC1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4
Tags
Red Red List (low evidence)
ERCC2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Xeroderma pigmentosum, group D
Tags
Red Red List (low evidence)
ERCC3
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Xeroderma Pigmentosum, Complementation Group B
Tags
Red Red List (low evidence)
ERCC4
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group Q
  • Xeroderma pigmentosum, group F
Tags
Red Red List (low evidence)
ERCC5
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Xeroderma pigmentosum, group G
Tags
Red Red List (low evidence)
ETV6
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Thrombocytopenia 5
Tags
Red Red List (low evidence)
EXT1
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Chondrosarcoma
Tags
Red Red List (low evidence)
EXT2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Multiple exostoses type 2
Tags
Red Red List (low evidence)
FAH
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
FANCA
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group A
Tags
Red Red List (low evidence)
FANCC
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group C
Tags
Red Red List (low evidence)
FANCD2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group D2
Tags
Red Red List (low evidence)
FANCE
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group E
Tags
Red Red List (low evidence)
FANCF
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group F
Tags
Red Red List (low evidence)
FANCG
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group G
Tags
Red Red List (low evidence)
FANCI
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group I
Tags
Red Red List (low evidence)
FANCL
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Fanconi anemia, complementation group L
Tags
Red Red List (low evidence)
FANCM
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
FAS
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Autoimmune lymphoproliferative syndrome
Tags
Red Red List (low evidence)
FH
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Multiple cutaneous leiomyomas
Tags
Red Red List (low evidence)
FLCN
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Birt-Hogg-Dub syndrome
Tags
Red Red List (low evidence)
GATA2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Tags
Red Red List (low evidence)
GBA
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
GJB2
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
GPC3
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Simpson-Golabi-Behmel syndrome
Tags
Red Red List (low evidence)
HFE
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hereditary hemochromatosis
Tags
Red Red List (low evidence)
HMBS
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
HNF1A
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hepatic adenomas, familial
Tags
Red Red List (low evidence)
HRAS
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Costello syndrome
Tags
Red Red List (low evidence)
ITK
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Lymphoproliferative syndrome 1
Tags
Red Red List (low evidence)
JMJD1C
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA
Tags
Red Red List (low evidence)
KIT
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Gastrointestinal stroma tumor
Tags
Red Red List (low evidence)
KRAS
0 reviews
Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • RAS-associated autoimmune leukoproliferative disorder
  • Noonan syndrome 3
Tags

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