Compendium of Cancer Genome Aberrations

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Germline Cancer Predisposition Genes (view source)

Revision as of 21:17, 8 February 2016

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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
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|[[ALK]]||2p23||[[familial neuroblastoma]]||[[neuroblastoma]]
 
|-
 
|-
−
|APC || 5q21 || adenomatous polyposis coli; Turcot syndrome || colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS
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|[[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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|-
 +
|[[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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|-
 +
|[[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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|-
 +
|[[CDKN1B]]||12p13.1-p12||[[multiple endocrine neoplasia type IV]]||[[pituitary]],[[ parathyroid]]
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|-
 +
|[[CDKN2A]]||9p21||[[familial malignant melanoma]]||[[melanoma]],[[ pancreatic]]
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|-
 +
|[[CHEK2]]||22q12.1||[[familial breast cancer]]||[[breast]]
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|-
 +
|[[CYLD]]||16q12-q13||[[familial cylindromatosis]]||[[cylindroma]]
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|-
 +
|[[DDB2]]||11p12||[[xeroderma pigmentosum (E)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|-
 +
|[[DICER1]]||14q32.13||[[familial pleuropulmonary blastoma or DICER1 syndrome]]||[[pleuropulmonary blastoma]]
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|-
 +
|[[EGFR]]||7p12.3-p12.1||[[familial lung cancer]]||[[NSCLC]]
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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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|-
 +
|[[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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|-
 +
|[[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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|-
 +
|[[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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|-
 +
|[[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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|-
 +
|[[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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|-
 +
|[[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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|-
 +
|[[XPC]]||3p25||[[xeroderma pigmentosum (C)]]||[[skin basal cell]],[[ skin squamous cell]],[[ melanoma]]
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|}
 
|}
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