View source for Germline Cancer Predisposition Genes

The following list is based on the 2016 [http://cancer.sanger.ac.uk/census/ Sanger Centre Cancer Gene Census].

{| class="wikitable sortable"
|-
! 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]]


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