Table 1 Selected genes with high/moderate and low or unknown cancer predisposition in alphabetical order, autosomal dominant first, followed by autosomal recessive and X-linked transmission.
Gene name | Location hg19 | Gene MIM no. | Tumour Types(Germline) | Cancer Syndrome | Inheri-tance | ACMG recomm. |
|---|---|---|---|---|---|---|
High risk genes with established predictions with surveillance recommendations | ||||||
APC | 5q22.2 | 611731 | colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS | adenomatous polyposis coli; Turcot syndrome | AD | yes |
BMPR1A | 10q23.2 | 601299 | gastrointestinal polyps | juvenile polyposis | AD | yes |
BRCA1 | 17q21.31 | 113705 | breast, ovarian | hereditary breast/ovarian cancer | AD | yes |
BRCA2 | 13q13.1 | 600185 | breast, ovarian, pancreatic, leukaemia | hereditary breast/ovarian cancer | AD | yes |
CDH1 | 16q22.1 | 192090 | gastric | familial gastric carcinoma | AD | no |
CDK4 | 12q14.1 | 123829 | melanoma | familial malignant melanoma | AD | no |
CDKN2A | 9p21.3 | 600160 | melanoma, pancreatic | familial malignant melanoma | AD | no |
EPCAM | 2p21 | 185535 | colorectal | Colorectal cancer, hereditary nonpolyposis, type 8 | AD | no |
FH | 1q43 | 136850 | leiomyomatosis, renal | hereditary leiomyomatosis and renal cell cancer | AD | no |
FLCN | 17p11.2 | 607273 | renal, fibrofolliculomas, trichodiscomas | Birt-Hogg-Dube syndrome | AD | no |
MEN1 | 11q13.1 | 613733 | parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid | multiple endocrine neoplasia type 1 | AD | yes |
MLH1 | 3p22.2 | 120436 | colorectal, endometrial, ovarian, central nervous system | hereditary non-polyposis colorectal cancer, Turcot syndrome | AD | yes |
MSH2 | 2p21-p16 | 609309 | colorectal, endometrial, ovarian | hereditary non-polyposis colorectal cancer | AD | yes |
MSH6 | 2p16.3 | 600678 | colorectal, endometrial, ovarian | hereditary non-polyposis colorectal cancer | AD | yes |
MUTYH | 1p34.1 | 604933 | colorectal | adenomatous polyposis coli | AR | yes |
NF1 | 17q11.2 | 613113 | neurofibroma, glioma | neurofibromatosis type 1 | AD | no |
NF2 | 22q12.2 | 607379 | meningioma, acoustic neuroma | neurofibromatosis type 2 | AD | yes |
PMS2 | 7p22.1 | 600259 | colorectal, endometrial, ovarian, medulloblastoma, glioma | hereditary non-polyposis colorectal cancer, Turcot syndrome | AD | yes |
PTCH1 | 1p34.1 | 603673 | skin basal cell, medulloblastoma | nevoid basal cell carcinoma syndrome | AD | no |
PTEN | 10q23.31 | 601728 | harmartoma, glioma, prostate, endometrial | Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome | AD | yes |
RB1 | 13q14.2 | 614041 | retinoblastoma, sarcoma, breast, small cell lung carcinoma | familial retinoblastoma | AD | yes |
RET | 10q11.21 | 164761 | medullary thyroid, papillary thyroid, pheochromocytoma | multiple endocrine neoplasia 2A/2B | AD | yes |
SDHB | 1p36.13 | 185470 | paraganglioma, pheochromocytoma | familial paraganglioma | AD | yes |
SDHD | 11q23.1 | 602690 | paraganglioma, pheochromocytoma | familial paraganglioma | AD | yes |
SDHAF2 | 11q12.2 | 613019 | paraganglioma | familial paraganglioma | AD | yes |
SDHC | 1q23.3 | 602413 | paraganglioma, pheochromocytoma | familial paraganglioma | AD | yes |
SMAD4 | 18q21.2 | 600993 | gastrointestinal polyp | juvenile polyposis | AD | yes |
STK11 | 19p13.3 | 602216 | jejunal hamartoma, ovarian, testicular, pancreatic | Peutz-Jeghers syndrome | AD | yes |
TGFBR2 | 3p24.1 | 190182 | colorectal | Hereditary Nonpolyposis Colorectal Cancer type 6 | AD | yes |
TP53 | 17p13.1 | 191170 | breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types | Li-Fraumeni syndrome | AD | yes |
TSC1 | 9q34.13 | 605284 | hamartoma, renal cell carcinoma, tuberous sclerosis tuber | Tuberous sclerosis 1 | AD | yes |
TSC2 | 16p13.3 | 191092 | hamartoma, renal cell carcinoma, tuberous sclerosis tuber | Tuberous sclerosis 2 | AD | yes |
VHL | 3p25.3 | 608537 | renal, haemangioma, pheochromocytoma | Von Hippel-Lindau syndrome | AD | yes |
WT1 | 11p13 | 607102 | Wilms tumour | Denys-Drash syndrome, Frasier syndrome, familial Wilms tumour | AD | yes |
FANCA | 16q24.3 | 607139 | Acute myeloid leukemia, leukaemia | Fanconi anaemia complementation group A | AR | no |
FANCB | Xp22.2 | 300515 | Acute myeloid leukemia, leukaemia | Fanconi anemia, complementation group B | XLR | no |
FANCC | 9q22.32 | 613899 | Acute myeloid leukemia, leukaemia | Fanconi anaemia complementation group C | AR | no |
FANCD2 | 3p25.3 | 613984 | Acute myeloid leukemia, leukaemia | Fanconi anaemia complementation group D2 | AR | no |
FANCE | 6p21.31 | 613976 | Acute myeloid leukemia, leukaemia | Fanconi anaemia complementation group E | AR | no |
FANCF | 11p14.3 | 613897 | Acute myeloid leukemia, leukaemia | Fanconi anaemia complementation group F | AR | no |
FANCG | 9p13.3 | 602956 | Acute myeloid leukemia, leukaemia | Fanconi anaemia complementation group G | AR | no |
FANCL | 2p16.1 | 608111 | Acute myeloid leukemia, leukaemia | Fanconi anemia, complementation group L | AR | no |
EGFR | 7p11.2 | 131550 | Non-small-cell lung carcinoma | familial lung cancer | AR | no |
ERCC2 | 19q13.32 | 126340 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum, group D | AR | no |
ERCC3 | 2q14.3 | 133510 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum, group B | AR | no |
ERCC4 | 16p13.12 | 133520 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum, group F | AR | no |
ERCC5 | 13q33.1 | 133530 | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum, group G | AR | no |
EXT1 | 8q24.11 | 608177 | exostoses, osteosarcoma | multiple exostoses type 1 | AR | no |
NBN | 8q21.3 | 602667 | Non-Hodgkin lymphoma, glioma, medulloblastoma, rhabdomyosarcoma | Nijmegen breakage syndrome | AR | no |
Moderate/increased risk genes that are acknowledged guidelines screening and risk reduction measures in accordance with family history | ||||||
ALK | 2p23.2-p23.1 | 105590 | neuroblastoma | familial neuroblastoma | AD | no |
ATM | 11q22.3 | 607585 | leukaemia, lymphoma, medulloblastoma, glioma | ataxia-telangiectasia | AD | no |
BAP1 | 3p21.1 | 603089 | mesothelioma, uveal melanoma | Tumor predisposition syndrome | AD | no |
BRIP1 | 17q23.2 | 605882 | AML, leukaemia, breast | Fanconi anaemia J, breast cancer susceptiblity | AD | no |
CHEK2 | 22q12.1 | 604373 | breast | familial breast cancer | AD | no |
PALB2 | 16p12.2 | 610355 | Wilms tumour, medulloblastoma, AML, breast | Fanconi anaemia N, breast cancer susceptibility | AD | no |
RAD51C | 17q22 | 602774 | Breast,ovarian cancer | Breast-ovarian cancer, familial, susceptibility to, 3 | AD | no |
RAD51D | 17q12 | 602954 | Breast,ovarian cancer | Breast-ovarian cancer, familial, susceptibility to, 4 | AD | no |
Genes that have moderate or high risk based on published studies but pending professional recommendations regarding surveillance and risk reduction strategies | ||||||
ATR | 3q23 | 601215 | oropharyngeal | familial cutaneous telangiectasia and cancer syndrome, Seckel Syndrome | AD | no |
AXIN2 | 17q24.1 | 604025 | colorectal carcinoma | oligodontia-colorectal cancer syndrome | AD | no |
BARD1 | 2q35 | 601593 | ovarian cancer, breast cancer, endometrioid cancer | AD | no | |
BLM | 15q26.1 | 604610 | leukaemia, lymphoma, skin squamous cell, other tumour types | Bloom syndrome | AD | no |
CDC73 | 1q31.2 | 607393 | parathyroid adenoma, multiple ossifying jaw fibroma | hyperparathyroidism-jaw tumour syndrome | AD | no |
CDKN1B | 12p13.1 | 600778 | pituitary, parathyroid | multiple endocrine neoplasia type IV | AD | no |
DICER1 | 14q32.13 | 606241 | pleuropulmonary blastoma | familial pleuropulmonary blastoma or DICER1 syndrome | AD | no |
EXT2 | 11p11.2 | 608210 | exostoses, osteosarcoma | multiple exostoses type 2 | AD | no |
GALNT12 | 9q22.33 | 610290 | colorectal | Colorectal cancer, susceptibility to, 1 | AD | no |
HNF1A | 12q24.31 | 142410 | hepatic adenoma, hepatocellular carcinoma | familial hepatic adenoma | AD | no |
HOXB13 | 17q21-q22 | 604607 | prostate | Prostate cancer, hereditary, 9 | AD | no |
HRAS | 11p15.5 | 190020 | rhabdomyosarcoma, ganglioneuroblastoma, bladder | Costello syndrome | AD | no |
KDR | 4q12 | 191306 | melanoma | Hemangioma, capillary infantile, susceptibility to | AD | no |
KIT | 4q12 | 164920 | gastrointestinal, epithelioma | familial gastrointestinal stromal tumour | AD | no |
MAX | 14q23.3 | 154950 | pheochromocytoma | Pheochromocytoma, susceptibility to | AD | no |
MITF | 3p13 | 156845 | melanoma | Melanoma, cutaneous malignant, susceptibility to, 8 | AD | no |
PDGFRA | 4q12 | 173490 | gastrointestinal stromal tumour | familial gastrointestinal stromal tumour | AD | no |
PHB | 17q21.33 | 176705 | Breast cancer | {Breast cancer, susceptibility to} | AD | no |
PHOX2B | 4p13 | 603851 | neuroblastoma | familial neuroblastoma | AD | no |
POLD1 | 19q13.33 | 174761 | colorectal | Lynch syndrome | AD | no |
PRF1 | 10q22.1 | 170280 | various leukaemia, lymphoma | AD | no | |
PRKAR1A | 17q24.2 | 188830 | myxoma, endocrine, papillary thyroid | Carney complex | AD | no |
RAD50 | 5q31.1 | 604040 | breast cancer | Nijmegen breakage syndrome-like disorder | AR | no |
RAD51A | 15q15.1 | 179617 | breast cancer | ?Fanconi anemia, complementation group R | AD | no |
RAD54L | 1p34.1 | 603615 | breast cancer | Breast cancer, invasive ductal | AD | no |
SDHA | 5p15.33 | 600857 | paraganglioma | paragangliomas-5 (PGL5) | AD | no |
SMARCB1 | 22q11.23 | 601607 | malignant rhabdoid | rhabdoid predisposition syndrome | AD | no |
SMARCE1 | 17q21.2 | 603111 | meningioma | Meningioma, familial, susceptibility to | AD | no |
TERT | 5p15.33 | 187270 | melanoma | Melanoma, cutaneous malignant, 9 | AD | no |
TMEM127 | 2q11.2 | 613403 | pheochromocytoma, renal cell carcinoma | Pheochromocytoma, susceptibility to | AD | no |
DDB2 | 11p11.2 | 600811 | skin basal cell, skin squamous cell, melanoma | xeroderma pigmentosum (E) | AR | no |
RECQL4 | 8q24.3 | 603780 | osteosarcoma, skin basal cell, skin sqamous cell | Rothmund-Thompson syndrome | AR | no |
XPA | 9q22.33 | 611153 | skin basal cell, skin squamous cell, melanoma | xeroderma pigmentosum (A) | AR | no |
XPC | 3p25.1 | 613208 | skin basal cell, skin squamous cell, melanoma | xeroderma pigmentosum (C) | AR | no |
SUFU | 10q24.32 | 607035 | medulloblastoma | medulloblastoma predisposition | AR, AD | no |
GPC3 | Xq26.2 | 300037 | Wilms tumour | Simpson-Golabi-Behmel syndrome | XLR | no |
WAS | Xp11.23 | 300392 | lymphoma | Wiskott-Aldrich syndrome | XLR | no |
