Compendium of Cancer Genome Aberrations

Changes

Germline Cancer Predisposition Genes (view source)

Revision as of 21:15, 8 February 2016

7,398 bytes added ,  21:15, 8 February 2016
no edit summary
Line 1: Line 1:  +
The following list is based on the 2016 [http://http://cancer.sanger.ac.uk/census/ Sanger Centre Cancer Gene Census].
 +
 
{| 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]]
 +
|-
 +
|[[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]]
 +
 
    
|}
 
|}
Retrieved from "https://ccga.io/index.php/Special:MobileDiff/160"