Atlas of Genetics and Cytogenetics in Oncology and Haematology


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Cancer prone diseases

Table of Content

DiseasesGenes involved
Adenomatous polyposis of the colonAPC   
Alagille syndrome (AGS)JAG1   NOTCH2   
Alagille-Watson syndrome (AWS)JAG1   NOTCH2   
Albinism, Oculocutaneous Albinism type 1 (OCA1)TYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Alport syndrome and diffuse leiomyomatosisCOL4A3   COL4A5   COL4A6   
Anal atresia, sacral anomalies, presacral mass (ASP)MNX1   
Ancell-Spiegler cylindromasCYLD   
Angio-encephalo-cutaneous syndromeGNAQ   
Angio-osteohypertophy syndromeAGGF1   
Arteriohepatic dysplasia (AHD)JAG1   NOTCH2   
Ataxia telangiectasia (A-T)ATM   
Ataxia-telangiectasia, variant VINBN   RAD50   
Autoimmune lymphoproliferative syndromeCASP8   CASP10   CTLA4   FAS   FASLG   PRF1   
B-K mole syndromeCDKN2A   CDKN2C   TP53BP1   
Bannayan-Riley-Ruvalcaba syndromePTEN   
Bannayan-Zonana syndromePTEN   
Bazex syndrome
Bazex-Dupré-Christol syndrome (BDCS)
Beckwith-Wiedemann syndromeCDKN1C   H19   ICR1   TGM1   IGF2   KCNQ1OT1   NSD1   ZNF215   
Bilateral acoustic neurinomaNF2   
Bilateral acoustic neurofibromatosisNF2   
Bilateral acoustic schwannomasNF2   
Birt-Hogg-Dubé syndrome (BHDS)FLCN   
Bloom syndromeBML   
Bone dysplasia with malignant fibrous histiocytoma
Bone dysplasia with medullary fibrosarcoma
Bourneville diseaseTSC1   TSC2   
Broad thumb   hallux syndromeCREBBP   
Brooke-Fordyce trichoepitheliomasCYLD   
Brooke-Spiegler syndromeCYLD   
Bruton's agammaglobulinemiaBTK   
CHSLYST   
Cardiocutaneous syndromeBRAF   PTPN11   RAF1   
Carney complex (CNC)CNC2   PRKAR1A   
Carney triad
Carotid body tumorsSDHAF2   SDHB   SDHC   SDHD   MAX   MEN2   NF1   SDHA   TMEM127   VHL   
Cartilage-hair hypoplasia (CHH)RMRP   
Central neurofibromatosisNF2   
Cerebral gigantismNSD1   NFIX   
Chediak-Higashi SyndromeLYST   
ChemodectomasSDHAF2   SDHB   SDHC   SDHD   MAX   MEN2   NF1   SDHA   TMEM127   VHL   
Cholestasis with peripheral pulmonary stenosisJAG1   NOTCH2   
Cockayne syndromeERCC6   ERCC8   
Congenital generalized fibromatosisNOTCH3   PDGFRB   
Congenital myofibromatosisNOTCH3   PDGFRB   
Congenital neutropeniaELANE   HAX1   
Costello syndromeHRAS   
Cowden diseasePTEN   SDHB   SDHD   
Currarino syndromeMNX1   
Currarino triadMNX1   
Denys-Drash syndrome (DDS)WT1   
Diamond-Blackfan anemia (DBA)RPL5   RPL11   RPL15   RPL26   RPL35A   RPS7   RPS10   RPS17   RPS19   RPS24   
RPS26   RPS28   RPS29   TSR2   
Dianzani autoimmune lymphoproliferative disease (DALD)PRF1   SPP1   
Diaphyseal aclasisEXT1   EXT2   
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
Drash syndromeWT1   
Dubowitz syndromeACTB   
Dyschondrodysplasia with haemangiomas
Dyschondroplasia
Dyskeratosis congenita (DKC)DKC1   NHP2   NOP10   PARN   RTEL1   TERC   TERT   TINF2   WRAP53   
Dysplastic Nevus Syndrome (DNS)CDK4   CDKN2A   MC1R   MITF   POT1   TERT   XRCC3   
Dysplastic gangliocytoma of the cerebellumPTEN   
Dysplastic nevus syndrome (DNS)CDKN2A   CDKN2C   TP53BP1   
Eccrine tumours with ectodermal dysplasia.WNT10A   
Eczema-thrombocytopenia-immunodeficiency syndromeWAS   WIPF1   
Elattoproteus syndromeHMGA2   
Elephant man syndromeHMGA2   
Encephalocraniocutaneous lipomatosisHMGA2   
Encephalotrigeminal angiomatosisGNAQ   
EnchondromatosisACP5   PTPN11   
Enchondromatosis with multiple cavernous haemangiomas
Epidermodysplasia verruciformisTMC6   TMC8   
EpiloiaTSC1   TSC2   
Exomphalos-macroglossia-gigantism triadCDKN1C   H19   ICR1   TGM1   IGF2   KCNQ1OT1   NSD1   ZNF215   
FPD/AMLRUNX1   
Familial /sporadic gastrointestinal stromal tumors (GISTs)KIT   PDGFRA   SDHB   SDHC   
Familial Juvenile Polyposis SyndromeBMPR1A   SMAD4   
Familial Myeloproliferative DisordersTERT   GSKIP   ATG2B   RBBP6   BML   BRCA2   BRIP1   CEBPA   ELANE   FANCA   
FANCB   FANCC   FANCD2   FANCE   FANCF   FANCG   FANCI   FANCL   FANCM   HAX1   PALB2   RAD51C   RUNX1   SLX4   WAS   
Familial adenomatous polyposis (FAP)APC   
Familial atypical mole-malignant melanoma syndrome (FAMMM)CDKN2A   CDKN2C   TP53BP1   
Familial atypical multiple mole melanoma syndrome (FAMMM)CDK4   CDKN2A   MC1R   MITF   POT1   TERT   XRCC3   
Familial chronic lymphocytic leukaemia
Familial clear cell renal cancerDIRC1   DIRC2   DIRC3   FHIT   RNF139   
Familial cylindromatosisCYLD   
Familial glomus tumorsSDHAF2   SDHB   SDHC   SDHD   MAX   MEN2   NF1   SDHA   TMEM127   VHL   
Familial hepatic adenomasHNF1A   
Familial infiltrative fibromatosis.APC   CTNNB1   
Familial leukemia or MDS associated with monosomy 7
Familial liver adenomatosisHNF1A   
Familial melanomaCDK4   CDKN2A   MC1R   MITF   POT1   TERT   XRCC3   
Familial monosomy 7 syndrome
Familial myeloproliferative neoplasmsTERT   GSKIP   ATG2B   RBBP6   BML   BRCA2   BRIP1   CEBPA   ELANE   FANCA   
FANCB   FANCC   FANCD2   FANCE   FANCF   FANCG   FANCI   FANCL   FANCM   HAX1   PALB2   RAD51C   RUNX1   SLX4   WAS   
Familial nervous system tumour syndromesAPC   CHEK2   MLH1   MHS6   MSH2   NF1   NF2   PMS2   PTCH1   PTCH2   
PTEN   SDHB   SDHD   SUFU   TP53   TSC1   TSC2   VHL   
Familial nonchromaffin paragangliomasSDHAF2   SDHB   SDHC   SDHD   MAX   MEN2   NF1   SDHA   TMEM127   VHL   
Familial pancreatic cancerBRCA2   CDKN2A   MLH1   PALB2   PALLD   PHOX2B   PRSS1   STK11   TP53   
Familial platelet disorder with predisposition to acute myelogenous leukemiaRUNX1   
Familial platelet disorder with predisposition to myeloid malignancyRUNX1   
Familial prostate cancerELAC2   MSMB   MSR1   RNASEL   
Familial tylosisAAGAB   RHBDF2   
Familiar breast-ovarian cancerATM   BARD1   BRIP1   BRCA1   BRCA2   CASP8   CDH1   CHEK2   ESR1   HMMR   
NQO2   PALB2   PHB   PPM1D   PTEN   RAD51   RAD54L   STK11   TP53   XRCC3   
Fanconi anemiaFANCA   FANCB   FANCC   BRCA2   FANCD2   FANCE   FANCF   FANCG   FANCI   BACH1   
FANCL   FANCM   PALB2   RAD51C   SLX4   ERCC4   RAD51   BRCA1   UBE2T   
Fanconi pancytopeniaFANCA   FANCB   FANCC   BRCA2   FANCD2   FANCE   FANCF   FANCG   FANCI   BACH1   
FANCL   FANCM   PALB2   RAD51C   SLX4   ERCC4   RAD51   BRCA1   UBE2T   
Ferguson-Smith diseaseTGFBR1   
Fibrofolliculomas with Trichodiscomas and AcrochordonsFLCN   
Fifth phacomatosisPTCH1   PTCH2   SUFU   
Focal non epidermolytic palmoplantar keratoderma (NEPPK) with carcinoma of the oesophagusAAGAB   RHBDF2   
Follicular atrophoderma and basal cell carcinomas
Frasier syndrome (FS)WT1   
Gardner syndromeAPC   
Generalized lentiginosisBRAF   PTPN11   RAF1   
GigantismHMGA2   
GlomangiomaGLMN   
Glomus jugulare tumorsSDHAF2   SDHB   SDHC   SDHD   MAX   MEN2   NF1   SDHA   TMEM127   VHL   
Glomuvenous malformation (GVM)GLMN   
Glycogen storage disease type I (GSD I)AGL   G6PC   GAA   GBE1   GYS1   GYS2   PFKM   PHKA2   PHKB   PHKG2   
PYGL   PYGM   SLC37A4   
Gorlin syndromePTCH1   PTCH2   SUFU   
Gorlin syndrome (not to be confused with the Gorlin-Goltz/naevoid basal cell carcinoma syndrome)RET   
Gorlin-Goltz syndromePTCH1   PTCH2   SUFU   
Haemangiomatosis chondrodystrophica
Hamartomatous Intestinal PolyposisSTK11   
HemangiopericytomaNOTCH3   PDGFRB   
Hemihyperplasia isolated
Hepatic ductular paucity, syndromaticJAG1   NOTCH2   
Hereditary bone dysplasia with malignant change
Hereditary breast cancerATM   BARD1   BRIP1   BRCA1   BRCA2   CASP8   CDH1   CHEK2   ESR1   HMMR   
NQO2   PALB2   PHB   PPM1D   PTEN   RAD51   RAD54L   STK11   TP53   XRCC3   
Hereditary desmoid disease.APC   CTNNB1   
Hereditary diffuse gastric cancer (HDGC)
Hereditary erythrocytosisTERT   GSKIP   ATG2B   RBBP6   BML   BRCA2   BRIP1   CEBPA   ELANE   FANCA   
FANCB   FANCC   FANCD2   FANCE   FANCF   FANCG   FANCI   FANCL   FANCM   HAX1   PALB2   RAD51C   RUNX1   SLX4   WAS   
Hereditary leiomyomatosis and renal cell cancer (HLRCC)FH   
Hereditary multiple cutaneous leiomyomatosisFH   
Hereditary multiple exostosis (HME)EXT1   EXT2   
Hereditary non polyposis colorectal carcinoma (HNPCC Syndrome)EPCAM   MLH1   MSH2   MSH6   PMS1   PMS2   TGFBR2   
Hereditary pancreatic cancerBRCA2   CDKN2A   MLH1   PALB2   PALLD   PHOX2B   PRSS1   STK11   TP53   
Hereditary papillary renal cell carcinomaMET   
Hereditary paraganglioma (PGL)SDHAF2   SDHB   SDHC   SDHD   MAX   MEN2   NF1   SDHA   TMEM127   VHL   
Hereditary prostate cancerELAC2   MSMB   MSR1   RNASEL   
Hereditary thrombocytosisTERT   GSKIP   ATG2B   RBBP6   BML   BRCA2   BRIP1   CEBPA   ELANE   FANCA   
FANCB   FANCC   FANCD2   FANCE   FANCF   FANCG   FANCI   FANCL   FANCM   HAX1   PALB2   RAD51C   RUNX1   SLX4   WAS   
Hirschsprung disease with pigmentary anomaly (WS4)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Holoprosencephaly-diencephalic hamartoblastoma (HDH).SHH   SOX2   
Holoprosencephaly-diencephalic hamartoblastoma association, Holoprosencephaly-hypothalamic hamartoblastoma, Holoprosencephaly-diencephalic hamartomaSHH   SOX2   
Hornstein-Knickenberg SyndromeFLCN   
Howell-Evans syndromesAAGAB   RHBDF2   
Hoyeraal Hreidarsson syndromeDKC1   NHP2   NOP10   PARN   RTEL1   TERC   TERT   TINF2   WRAP53   
Hydrocephalus, costovertebral dysplasia, sprengel anomalyPTCH1   PTCH2   SUFU   
Hyperparathyroidism-Jaw tumor syndrome (HPT-JT)CDC73   
Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS)ERCC2   ERCC3   GTF2H5   MPLKIP   
Immunodeficiency, microcephaly, chromosomal instabilityNBN   RAD50   
Infantile myofibromatosisNOTCH3   PDGFRB   
Isolated hemihypertrophy
JPSBMPR1A   SMAD4   
Kast syndrome
Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis.WNT10A   
Klein-Waardenburg syndrome (WS3)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Klippel Trenaunay syndromeAGGF1   
Kostmann syndromeELANE   HAX1   
LEOPARD syndromeBRAF   PTPN11   RAF1   
Levandowsky-Lutz syndromeTMC6   TMC8   
Lhermitte-Duclos diseasePTEN   
Li-Fraumeni syndromeCDKN2A   CHEK2   PTEN   TP53   
Louis-Bar syndromeATM   
Lynch syndromeEPCAM   MLH1   MSH2   MSH6   PMS1   PMS2   TGFBR2   
MUTYH associated polyposisMUTYH   
MUTYH-Associated Polyposis (MAP)MUTYH   
MVABUB1B   CEP57   
MYH associated polyposisMUTYH   
Macrocephaly, multiple lipomas, hemangiomataPTEN   
Macrocephaly, pseudopapilledema, multiple hemangiomataPTEN   
Maffucci syndrome
Male Turner syndromeBRAF   KRAS   NRAS   PTPN11   RAF1   RIT1   SOS1   
Malignant tumors of the central nervous system associated with familial polyposis of the colonAPC   MLH1   MHS6   MSH2   PMS2   
McCune Albright syndromeGNAS   
Melanoma and neural system tumour syndromeCDKN2A   
Melanoma-Astrocytoma syndromeCDKN2A   
Mesenchymal hamartomatosisNOTCH3   PDGFRB   
Metaphyseal chondrodysplasia, McKusick typeRMRP   
Microcephaly with normal intelligence, immunodeficiency, lymphoreticular malignanciesNBN   RAD50   
Mosaic variegated aneuploidy syndromeBUB1B   CEP57   
Mulibrey nanismTRIM37   
Multiple angiomas and endochondromas
Multiple basal cell nevi, odontogenic keratocysts, skeletal anomaliesPTCH1   PTCH2   SUFU   
Multiple cartilaginous enchondroses
Multiple cartlaginous exostosesEXT1   EXT2   
Multiple chondromatosisACP5   PTPN11   
Multiple cutaneous and uterine leiomyomatosis (MCUL)FH   
Multiple enchondromatosisACP5   PTPN11   
Multiple enchondromatosis
Multiple endocrine neoplasia type 1 (MEN1)MEN1   
Multiple endocrine neoplasia type 2 (MEN2)RET   
Multiple familial trichoepitheliomasCYLD   
Multiple glomus tumorGLMN   
Multiple hamartoma syndromePTEN   SDHB   SDHD   
Multiple hereditary exostoses (MHE)EXT1   EXT2   
Multiple hereditary osteochondromatosisEXT1   EXT2   
Multiple osteochondromas (MO)EXT1   EXT2   
Multiple self-healing squamous epitheliomaTGFBR1   
Multiple-lentigines syndromeBRAF   PTPN11   RAF1   
Muscle-liver-brain-eye nanismTRIM37   
Naevoid basal cell carcinoma syndrome (NBCS)PTCH1   PTCH2   SUFU   
Nephropathy, Wilms tumor, and genital anomaliesWT1   
Neurofibromatosis type 1 (NF1)NF1   
Neurofibromatosis type 2 (NF2)NF2   
Nijmegen breakage syndromeNBN   RAD50   
Noonan syndromeBRAF   KRAS   NRAS   PTPN11   RAF1   RIT1   SOS1   
Noonan-like syndrome with nasal papillomataHRAS   
Oculocutaneous AlbinismTYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Oculocutaneous Albinism type 2 (OCA2)TYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Oculocutaneous Albinism type 3 (OCA3)TYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Oculocutaneous Albinism type 4 (OCA4)TYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Oculocutaneous Albinism type 5 (OCA5)TYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Oculocutaneous Albinism type 6 (OCA6)TYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Oculocutaneous Albinism type 7 (OCA7)TYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Ollier disease
Paget's disease of boneSQSTM1   
Pallister Hall syndrome (PHS)GLI3   
Perheentupa syndromeTRIM37   
Pericardial constriction and growth failureTRIM37   
Peripheral neurofibromatosisNF1   
Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism)DIS3L2   
Peutz-Jeghers syndromeSTK11   
PiebaldismKIT   KITLG   SNAI2   
Poikiloderma atrophicans and cataractRECQL4   
Polyps-and-Spots SyndromeSTK11   
Porokeratosis of Mibelli--   
Prader Willi syndromeNDN   SNRPN   
Progressive cardiomyopathic lentiginosisBRAF   PTPN11   RAF1   
Proteus syndromeHMGA2   
Pseudo-Turner syndromeBRAF   KRAS   NRAS   PTPN11   RAF1   RIT1   SOS1   
RetinoblastomaRB1   
Rhabdoid predisposition syndromeSMARCA4   SMARCB1   
Riley-Smith syndromePTEN   
Rombo syndrome
Rothmund-Thomson syndrome (RTS)RECQL4   
Rubinstein-Taybi syndrome (RTS)CREBBP   
Ruvalcaba-Myhre-Smith syndromePTEN   
Sacral defect with anterior meningocoeleMNX1   
Schöpf-Schulz-Passarge syndrome (SSPS)WNT10A   
Schinzel-Giedion midface retraction syndromeSETBP1   
Schinzel-Giedion syndromeSETBP1   
SchwannomatosisSMARCB1   
Seemanova syndrome IINBN   RAD50   
Severe chronic neutropenia (SCN)ELANE   HAX1   
Shan-Waardenburg syndrome (WS4)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Shwachman-Diamond syndrome (SDS)SBDS   
Signet ring carcinoma or isolated cell type carcinoma.
Silver Russell syndrome
Simpson-Golabi-Behmel syndromeGPC3   OFD1   
Sipple syndromeRET   
Site-specific breast cancerATM   BARD1   BRIP1   BRCA1   BRCA2   CASP8   CDH1   CHEK2   ESR1   HMMR   
NQO2   PALB2   PHB   PPM1D   PTEN   RAD51   RAD54L   STK11   TP53   XRCC3   
Sotos syndrome (SOS)NSD1   NFIX   
Stiff-man syndromeAMPH   GAD2   GPHN   
Stiff-person syndromeAMPH   GAD2   GPHN   
Sturge Weber syndromeGNAQ   
Trichothiodystrophy (TTD)ERCC2   ERCC3   GTF2H5   MPLKIP   
Tuberous sclerosis (TSC)TSC1   TSC2   
Turban tumor syndromeCYLD   
Turcot syndromeAPC   MLH1   MHS6   MSH2   PMS2   
Tylosis oesophageal cancerAAGAB   RHBDF2   
Tyrosinase-Negative AlbinismTYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Tyrosinase-Positive AlbinismTYR   OCA2   TYRP1   SLC45A2   SLC24A5   C10orf11   
Variegated aneuploidy related to premature centromere division (PCD)BUB1B   CEP57   
Vascular leiomyoma of the newbornNOTCH3   PDGFRB   
Von Hippel-LindauVHL   CCND1   
Von Recklinghausen neurofibromatosisNF1   
WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome)PAX6   WT1   
Waardenburg syndrome (WS)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Waardenburg syndrome variant (WS4)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Waardenburg syndrome with upper limb anomalies (WS3)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Waardenburg-Hirschsprung disease (WS4)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Weaver syndromeEED   EZH2   NSD   
Wermer's syndromeMEN1   
Werner syndromeWRN   
White forelock with malformations (WS3)EDN3   EDNRB   MITF   PAX3   SNAI2   SOX10   
Wilms tumor and pseudo- or true hermaphroditismWT1   
Wiskott-Aldrich Syndrome (WAS)WAS   WIPF1   
X-linked agammaglobulinemia (XLA)BTK   
X-linked lymphoproliferative disease (XLP)SH2D1A   XIAP   
Xeroderma pigmentosumXPA   XPB   XPC   XPE   XPF   XPG   ERCC2   EERCC3   ERCC4   ERCC5   
POLH   
Zinsser Cole Engeman syndromeDKC1   NHP2   NOP10   PARN   RTEL1   TERC   TERT   TINF2   WRAP53   
osteitis deformansSQSTM1   
venous malformation with glomus cells (VMGLOM)GLMN   
von Gierke diseaseAGL   G6PC   GAA   GBE1   GYS1   GYS2   PFKM   PHKA2   PHKB   PHKG2   
PYGL   PYGM   SLC37A4   


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