| Gene Symbol |
Chromosome Band |
Cancer Syndrome |
Tumour Types Arising
|
| ALK |
2p23 |
familial neuroblastoma |
neuroblastoma
|
| APC |
5q21 |
adenomatous polyposis coli; Turcot syndrome |
colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS
|
| ATM |
11q22.3 |
ataxia-telangiectasia |
leukaemia, lymphoma, medulloblastoma, glioma
|
| ATR |
3q23 |
familial cutaneous telangiectasia and cancer sydrome |
oropharyngeal
|
| AXIN2 |
17q24.1 |
oligodontia-colorectal cancer syndrome |
colorectal carcinoma
|
| BAP1 |
3p21.31-p21.2 |
|
mesothelioma, uveal melanoma
|
| BLM |
15q26.1 |
Bloom syndrome |
leukaemia, lymphoma, skin squamous cell, other tumour types
|
| BMPR1A |
10q22.3 |
juvenile polyposis |
gastrointestinal polyps
|
| BRCA1 |
17q21 |
hereditary breast/ovarian cancer |
breast, ovarian
|
| BRCA2 |
13q12 |
hereditary breast/ovarian cancer |
breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1)
|
| BRIP1 |
17q22 |
Fanconi anaemia J, breast cancer susceptiblity |
AML, leukaemia, breast
|
| BUB1B |
15q15 |
mosaic variegated aneuploidy |
rhabdomyosarcoma
|
| CDC73 |
1q21-q31 |
hyperparathyroidism-jaw tumour syndrome |
parathyroid adenoma, multiple ossifying jaw fibroma
|
| CDH1 |
16q22.1 |
familial gastric carcinoma |
gastric
|
| CDK4 |
12q14 |
familial malignant melanoma |
melanoma
|
| CDKN1B |
12p13.1-p12 |
multiple endocrine neoplasia type IV |
pituitary, parathyroid
|
| CDKN2A |
9p21 |
familial malignant melanoma |
melanoma, pancreatic
|
| CHEK2 |
22q12.1 |
familial breast cancer |
breast
|
| CYLD |
16q12-q13 |
familial cylindromatosis |
cylindroma
|
| DDB2 |
11p12 |
xeroderma pigmentosum (E) |
skin basal cell, skin squamous cell, melanoma
|
| DICER1 |
14q32.13 |
familial pleuropulmonary blastoma or DICER1 syndrome |
pleuropulmonary blastoma
|
| EGFR |
7p12.3-p12.1 |
familial lung cancer |
NSCLC
|
| ERCC2 |
19q13.2-q13.3 |
xeroderma pigmentosum (D) |
skin basal cell, skin squamous cell, melanoma
|
| ERCC3 |
2q21 |
xeroderma pigmentosum (B) |
skin basal cell, skin squamous cell, melanoma
|
| ERCC4 |
16p13.3-p13.13 |
xeroderma pigmentosum (F) |
skin basal cell, skin squamous cell, melanoma
|
| ERCC5 |
13q33 |
xeroderma pigmentosum (G) |
skin basal cell, skin squamous cell, melanoma
|
| EXT1 |
8q24.11-q24.13 |
multiple exostoses type 1 |
exostoses, osteosarcoma
|
| EXT2 |
11p12-p11 |
multiple exostoses type 2 |
exostoses, osteosarcoma
|
| FANCA |
16q24.3 |
Fanconi anaemia A |
AML, leukaemia
|
| FANCC |
9q22.3 |
Fanconi anaemia C |
AML, leukaemia
|
| FANCD2 |
3p26 |
Fanconi anaemia D2 |
AML, leukaemia
|
| FANCE |
6p21-p22 |
Fanconi anaemia E |
AML, leukaemia
|
| FANCF |
11p15 |
Fanconi anaemia F |
AML, leukaemia
|
| FANCG |
9p13 |
Fanconi anaemia G |
AML, leukaemia
|
| FH |
1q42.1 |
hereditary leiomyomatosis and renal cell cancer |
leiomyomatosis, renal
|
| FLCN |
17p11.2 |
Birt-Hogg-Dube syndrome |
renal, fibrofolliculomas, trichodiscomas
|
| GPC3 |
Xq26.1 |
Simpson-Golabi-Behmel syndrome |
Wilms tumour
|
| HNF1A |
12q24.2 |
familial hepatic adenoma |
hepatic adenoma, hepatocellular carcinoma
|
| HRAS |
11p15.5 |
Costello syndrome |
rhabdomyosarcoma, ganglioneuroblastoma, bladder
|
| KIT |
4q12 |
familial gastrointestinal stromal tumour |
GIST, epithelioma
|
| LMO1 |
11p15 |
|
neuroblastoma
|
| MAX |
14q23 |
|
pheochromocytoma
|
| MEN1 |
11q13 |
multiple endocrine neoplasia type 1 |
parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid
|
| MLH1 |
3p21.3 |
hereditary non-polyposis colorectal cancer, Turcot syndrome |
colorectal, endometrial, ovarian, CNS
|
| MPL |
1p34 |
familial essential thrombocythemia |
MPN
|
| MSH2 |
2p22-p21 |
hereditary non-polyposis colorectal cancer |
colorectal, endometrial, ovarian
|
| MSH6 |
2p16 |
hereditary non-polyposis colorectal cancer |
colorectal, endometrial, ovarian
|
| MUTYH |
1p34.3-1p32.1 |
adenomatous polyposis coli |
colorectal
|
| NBN |
8q21 |
Nijmegen breakage syndrome |
NHL, glioma, medulloblastoma, rhabdomyosarcoma
|
| NF1 |
17q12 |
neurofibromatosis type 1 |
neurofibroma, glioma
|
| NF2 |
22q12.2 |
neurofibromatosis type 2 |
meningioma, acoustic neuroma
|
| PALB2 |
16p12.1 |
Fanconi anaemia N, breast cancer susceptibility |
Wilms tumour, medulloblastoma, AML ,breast
|
| PDGFRA |
4q11-q13 |
familial gastrointestinal stromal tumour |
GIST
|
| PHOX2B |
4p12 |
familial neuroblastoma |
neuroblastoma
|
| PMS1 |
2q31-q33 |
hereditary non-polyposis colorectal cancer |
colorectal, endometrial, ovarian
|
| PMS2 |
7p22 |
hereditary non-polyposis colorectal cancer, Turcot syndrome |
colorectal, endometrial, ovarian, medulloblastoma, glioma
|
| POLE |
12q24.3 |
|
colorectal cancer susceptibility
|
| PRF1 |
10q22 |
|
various leukaemia, lymphoma
|
| PRKAR1A |
17q23-q24 |
Carney complex |
myxoma, endocrine, papillary thyroid
|
| PTCH1 |
9q22.3 |
nevoid basal cell carcinoma syndrome |
skin basal cell, medulloblastoma
|
| PTEN |
10q23.3 |
Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome |
harmartoma, glioma, prostate, endometrial
|
| RB1 |
13q14 |
familial retinoblastoma |
retinoblastoma, sarcoma, breast, small cell lung carcinoma
|
| RECQL4 |
8q24.3 |
Rothmund-Thompson syndrome |
osteosarcoma, skin basal cell, skin sqamous cell
|
| RET |
10q11.2 |
multiple endocrine neoplasia 2A/2B |
medullary thyroid, papillary thyroid, pheochromocytoma
|
| SBDS |
7q11 |
Schwachman-Diamond syndrome |
AML, MDS
|
| SDHAF2 |
11q12.2 |
familial paraganglioma |
paraganglioma
|
| SDHB |
1p36.1-p35 |
familial paraganglioma |
paraganglioma, pheochromocytoma
|
| SDHC |
1q21 |
familial paraganglioma |
paraganglioma, pheochromocytoma
|
| SDHD |
11q23 |
familial paraganglioma |
paraganglioma, pheochromocytoma
|
| SETBP1 |
18q21.1 |
Schinzel-Giedion syndrome |
neuroepithelial tumours
|
| SMAD4 |
18q21.1 |
juvenile polyposis |
gastrointestinal polyp
|
| SMARCB1 |
22q11 |
rhabdoid predisposition syndrome |
malignant rhabdoid
|
| SMARCE1 |
17q21.2 |
|
meningioma
|
| STAT3 |
17q21.31 |
|
paediatric large granular lymphocytic leukaemia
|
| STK11 |
19p13.3 |
Peutz-Jeghers syndrome |
jejunal hamartoma, ovarian, testicular, pancreatic
|
| SUFU |
10q24.32 |
medulloblastoma predisposition |
medulloblastoma
|
| TERT |
5p15.33 |
|
melanoma
|
| TP53 |
17p13 |
Li-Fraumeni syndrome |
breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types
|
| TSC1 |
9q34 |
Tuberous sclerosis 1 |
hamartoma, renal cell carcinoma, tuberous sclerosis tuber
|
| TSC2 |
16p13.3 |
Tuberous sclerosis 2 |
hamartoma, renal cell carcinoma, tuberous sclerosis tuber
|
| TSHR |
14q31 |
|
thyroid adenoma
|
| VHL |
3p25 |
Von Hippel-Lindau syndrome |
renal, haemangioma, pheochromocytoma
|
| WAS |
Xp11.23-p11.22 |
Wiskott-Aldrich syndrome |
lymphoma
|
| WRN |
8p12-p11.2 |
Werner syndrome |
osteosarcoma, meningioma, other tumour types
|
| WT1 |
11p13 |
Denys-Drash syndrome, Frasier syndrome, familial Wilms tumour |
Wilms tumour
|
| XPA |
9q22.3 |
xeroderma pigmentosum (A) |
skin basal cell, skin squamous cell, melanoma
|
| XPC |
3p25 |
xeroderma pigmentosum (C) |
skin basal cell, skin squamous cell, melanoma
|