Difference between revisions of "Germline Cancer Predisposition Genes"

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The following list is based on the 2016 [http://cancer.sanger.ac.uk/census/ Sanger Centre Cancer Gene Census].
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
! Gene Symbol !! Chromosome Band !! Cancer Syndrome !! Tumour Types Arising
 
! Gene Symbol !! Chromosome Band !! Cancer Syndrome !! Tumour Types Arising
 
|-
 
|-
−
|[[ALK]] || 2p23 || familial neuroblastoma || neuroblastoma
+
|[[ALK]]||2p23||[[familial neuroblastoma]]||[[neuroblastoma]]
 
|-
 
|-
−
|APC || 5q21 || adenomatous polyposis coli; Turcot syndrome || colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS
+
|[[APC]]||5q21||[[adenomatous polyposis coli; Turcot syndrome]]||[[colorectal]],[[ pancreatic]],[[ desmoid]],[[ hepatoblastoma]],[[ glioma]],[[ other CNS]]
 
|-
 
|-
−
|ATM || 11q22.3 || ataxia-telangiectasia || leukaemia, lymphoma, medulloblastoma, glioma
+
|[[ATM]]||11q22.3||[[ataxia-telangiectasia]]||[[leukaemia]],[[ lymphoma]],[[ medulloblastoma]],[[ glioma]]
 
|-
 
|-
−
|ATR || 3q23 || familial cutaneous telangiectasia and cancer sydrome || oropharyngeal
+
|[[ATR]]||3q23||[[familial cutaneous telangiectasia and cancer sydrome]]||[[oropharyngeal]]
 
|-
 
|-
−
|AXIN2 || 17q24.1 || oligodontia-colorectal cancer syndrome || colorectal carcinoma
+
|[[AXIN2]]||17q24.1||[[oligodontia-colorectal cancer syndrome]]||[[colorectal carcinoma]]
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|-
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|[[BAP1]]||3p21.31-p21.2|| ||[[mesothelioma]],[[ uveal melanoma]]
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|-
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|[[BLM]]||15q26.1||[[Bloom syndrome]]||[[leukaemia]],[[ lymphoma]],[[ skin squamous cell]],[[ other tumour types]]
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|-
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|[[BMPR1A]]||10q22.3||[[juvenile polyposis]]||[[gastrointestinal polyps]]
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|-
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|[[BRCA1]]||17q21||[[hereditary breast/ovarian cancer]]||[[breast]],[[ ovarian]]
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|-
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|[[BRCA2]]||13q12||[[hereditary breast/ovarian cancer]]||[[breast]],[[ ovarian]],[[ pancreatic]],[[ leukaemia  (FANCB]],[[ FANCD1)]]
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|-
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|[[BRIP1]]||17q22||[[Fanconi anaemia J]],[[ breast cancer susceptiblity]]||[[AML]],[[ leukaemia]],[[ breast]]
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|-
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|[[BUB1B]]||15q15||[[mosaic variegated aneuploidy]]||[[rhabdomyosarcoma]]
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|-
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|[[CDC73]]||1q21-q31||[[hyperparathyroidism-jaw tumour syndrome]]||[[parathyroid adenoma]],[[ multiple ossifying jaw fibroma]]
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|-
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|[[CDH1]]||16q22.1||[[familial gastric carcinoma]]||[[gastric]]
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|-
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|[[CDK4]]||12q14||[[familial malignant melanoma]]||[[melanoma]]
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|-
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|[[CDKN1B]]||12p13.1-p12||[[multiple endocrine neoplasia type IV]]||[[pituitary]],[[ parathyroid]]
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|-
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|[[CDKN2A]]||9p21||[[familial malignant melanoma]]||[[melanoma]],[[ pancreatic]]
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|-
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|[[CHEK2]]||22q12.1||[[familial breast cancer]]||[[breast]]
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|-
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|[[CYLD]]||16q12-q13||[[familial cylindromatosis]]||[[cylindroma]]
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|-
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|[[DDB2]]||11p12||[[xeroderma pigmentosum (E)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|-
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|[[DICER1]]||14q32.13||[[familial pleuropulmonary blastoma or DICER1 syndrome]]||[[pleuropulmonary blastoma]]
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|-
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|[[EGFR]]||7p12.3-p12.1||[[familial lung cancer]]||[[NSCLC]]
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|-
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|[[ERCC2]]||19q13.2-q13.3||[[xeroderma pigmentosum (D)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|-
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|[[ERCC3]]||2q21||[[xeroderma pigmentosum (B)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|-
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|[[ERCC4]]||16p13.3-p13.13||[[xeroderma pigmentosum (F)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|-
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|[[ERCC5]]||13q33||[[xeroderma pigmentosum (G)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|-
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|[[EXT1]]||8q24.11-q24.13||[[multiple exostoses type 1]]||[[exostoses]],[[ osteosarcoma]]
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|-
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|[[EXT2]]||11p12-p11||[[multiple exostoses type 2]]||[[exostoses]],[[ osteosarcoma]]
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|-
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|[[FANCA]]||16q24.3||[[Fanconi anaemia A]]||[[AML]],[[ leukaemia]]
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|-
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|[[FANCC]]||9q22.3||[[Fanconi anaemia C]]||[[AML]],[[ leukaemia]]
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|-
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|[[FANCD2]]||3p26||[[Fanconi anaemia D2]]||[[AML]],[[ leukaemia]]
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|-
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|[[FANCE]]||6p21-p22||[[Fanconi anaemia E]]||[[AML]],[[ leukaemia]]
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|-
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|[[FANCF]]||11p15||[[Fanconi anaemia F]]||[[AML]],[[ leukaemia]]
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|-
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|[[FANCG]]||9p13||[[Fanconi anaemia G]]||[[AML]],[[ leukaemia]]
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|-
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|[[FH]]||1q42.1||[[hereditary leiomyomatosis and renal cell cancer]]||[[leiomyomatosis]],[[ renal]]
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|-
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|[[FLCN]]||17p11.2||[[Birt-Hogg-Dube syndrome]]||[[renal]],[[ fibrofolliculomas]],[[ trichodiscomas]]
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|-
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|[[GPC3]]||Xq26.1||[[Simpson-Golabi-Behmel syndrome]]||[[Wilms tumour]]
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|-
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|[[HNF1A]]||12q24.2||[[familial hepatic adenoma]]||[[hepatic adenoma]],[[ hepatocellular carcinoma]]
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|-
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|[[HRAS]]||11p15.5||[[Costello syndrome]]||[[rhabdomyosarcoma]],[[ ganglioneuroblastoma]],[[ bladder]]
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|-
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|[[KIT]]||4q12||[[familial gastrointestinal stromal tumour]]||[[GIST]],[[ epithelioma]]
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|-
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|[[LMO1]]||11p15|| ||[[neuroblastoma]]
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|-
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|[[MAX]]||14q23|| ||[[pheochromocytoma]]
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|-
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|[[MEN1]]||11q13||[[multiple endocrine neoplasia type 1]]||[[parathyroid adenoma]],[[ pituitary adenoma]],[[ pancreatic islet cell]],[[ carcinoid]]
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|-
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|[[MLH1]]||3p21.3||[[hereditary non-polyposis colorectal cancer]],[[ Turcot syndrome]]||[[colorectal]],[[ endometrial]],[[ ovarian]],[[ CNS]]
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|-
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|[[MPL]]||1p34||[[familial essential thrombocythemia]]||[[MPN]]
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|-
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|[[MSH2]]||2p22-p21||[[hereditary non-polyposis colorectal cancer]]||[[colorectal]],[[ endometrial]],[[ ovarian]]
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|-
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|[[MSH6]]||2p16||[[hereditary non-polyposis colorectal cancer]]||[[colorectal]],[[ endometrial]],[[ ovarian]]
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|-
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|[[MUTYH]]||1p34.3-1p32.1||[[adenomatous polyposis coli]]||[[colorectal]]
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|-
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|[[NBN]]||8q21||[[Nijmegen breakage syndrome]]||[[NHL]],[[ glioma]],[[ medulloblastoma]],[[ rhabdomyosarcoma]]
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|-
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|[[NF1]]||17q12||[[neurofibromatosis type 1]]||[[neurofibroma]],[[ glioma]]
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|-
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|[[NF2]]||22q12.2||[[neurofibromatosis type 2]]||[[meningioma]],[[ acoustic neuroma]]
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|-
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|[[PALB2]]||16p12.1||[[Fanconi anaemia N]],[[ breast cancer susceptibility]]||[[Wilms tumour]],[[ medulloblastoma]],[[ AML ]],[[breast]]
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|-
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|[[PDGFRA]]||4q11-q13||[[familial gastrointestinal stromal tumour]]||[[GIST]]
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|-
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|[[PHOX2B]]||4p12||[[familial neuroblastoma]]||[[neuroblastoma]]
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|-
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|[[PMS1]]||2q31-q33||[[hereditary non-polyposis colorectal cancer]]||[[colorectal]],[[ endometrial]],[[ ovarian]]
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|-
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|[[PMS2]]||7p22||[[hereditary non-polyposis colorectal cancer]],[[ Turcot syndrome]]||[[colorectal]],[[ endometrial]],[[ ovarian]],[[ medulloblastoma]],[[ glioma]]
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|-
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|[[POLE]]||12q24.3|| ||[[colorectal cancer susceptibility]]
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|-
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|[[PRF1]]||10q22|| ||[[various leukaemia]],[[ lymphoma]]
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|-
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|[[PRKAR1A]]||17q23-q24||[[Carney complex]]||[[myxoma]],[[ endocrine]],[[ papillary thyroid]]
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|-
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|[[PTCH1]]||9q22.3||[[nevoid basal cell carcinoma syndrome]]||[[skin basal cell]],[[ medulloblastoma]]
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|-
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|[[PTEN]]||10q23.3||[[Cowden syndrome]],[[ Bannayan-Riley-Ruvalcaba syndrome]]||[[harmartoma]],[[ glioma]],[[ prostate]],[[ endometrial]]
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|-
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|[[RB1]]||13q14||[[familial retinoblastoma]]||[[retinoblastoma]],[[ sarcoma]],[[ breast]],[[ small cell lung carcinoma]]
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|-
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|[[RECQL4]]||8q24.3||[[Rothmund-Thompson syndrome]]||[[osteosarcoma]],[[ skin basal cell]],[[ skin sqamous cell]]
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|-
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|[[RET]]||10q11.2||[[multiple endocrine neoplasia 2A/2B]]||[[medullary thyroid]],[[  papillary thyroid]],[[ pheochromocytoma]]
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|-
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|[[SBDS]]||7q11||[[Schwachman-Diamond syndrome]]||[[AML]],[[ MDS]]
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|-
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|[[SDHAF2]]||11q12.2||[[familial paraganglioma]]||[[paraganglioma]]
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|-
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|[[SDHB]]||1p36.1-p35||[[familial paraganglioma]]||[[paraganglioma]],[[ pheochromocytoma]]
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|-
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|[[SDHC]]||1q21||[[familial paraganglioma]]||[[paraganglioma]],[[ pheochromocytoma]]
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|-
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|[[SDHD]]||11q23||[[familial paraganglioma]]||[[paraganglioma]],[[ pheochromocytoma]]
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|-
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|[[SETBP1]]||18q21.1||[[Schinzel-Giedion syndrome]]||[[neuroepithelial tumours]]
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|-
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|[[SMAD4]]||18q21.1||[[juvenile polyposis]]||[[gastrointestinal polyp]]
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|-
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|[[SMARCB1]]||22q11||[[rhabdoid predisposition syndrome]]||[[malignant rhabdoid]]
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|-
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|[[SMARCE1]]||17q21.2|| ||[[meningioma]]
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|-
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|[[STAT3]]||17q21.31|| ||[[paediatric large granular lymphocytic leukaemia]]
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|-
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|[[STK11]]||19p13.3||[[Peutz-Jeghers syndrome]]||[[jejunal hamartoma]],[[ ovarian]],[[ testicular]],[[ pancreatic]]
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|-
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|[[SUFU]]||10q24.32||[[medulloblastoma predisposition]]||[[medulloblastoma]]
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|-
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|[[TERT]]||5p15.33|| ||[[melanoma]]
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|-
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|[[TP53]]||17p13||[[Li-Fraumeni syndrome]]||[[breast]],[[ sarcoma]],[[ adrenocortical carcinoma]],[[ glioma]],[[ multiple other tumour types]]
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|-
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|[[TSC1]]||9q34||[[Tuberous sclerosis 1]]||[[hamartoma]],[[ renal cell carcinoma]],[[ tuberous sclerosis tuber]]
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|-
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|[[TSC2]]||16p13.3||[[Tuberous sclerosis 2]]||[[hamartoma]],[[ renal cell carcinoma]],[[ tuberous sclerosis tuber]]
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|-
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|[[TSHR]]||14q31|| ||[[thyroid adenoma]]
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|-
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|[[VHL]]||3p25||[[Von Hippel-Lindau syndrome]]||[[renal]],[[ haemangioma]],[[ pheochromocytoma]]
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|-
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|[[WAS]]||Xp11.23-p11.22||[[Wiskott-Aldrich syndrome]]||[[lymphoma]]
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|-
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|[[WRN]]||8p12-p11.2||[[Werner syndrome]]||[[osteosarcoma]],[[ meningioma]],[[ other tumour types]]
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|-
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|[[WT1]]||11p13||[[Denys-Drash syndrome]],[[ Frasier syndrome]],[[ familial Wilms tumour]]||[[Wilms tumour]]
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|-
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|[[XPA]]||9q22.3||[[xeroderma pigmentosum (A)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|-
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|[[XPC]]||3p25||[[xeroderma pigmentosum (C)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|}
 
|}

Latest revision as of 21:17, 8 February 2016

The following list is based on the 2016 Sanger Centre Cancer Gene Census.

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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