ern: genturis gene-c tumour risk syndromes - eshg.org · ern: genturis gene-c tumour risk syndromes...
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ERN:GENTURISGene-cTumourRiskSyndromes
ProfNicolineHoogerbruggeMD,PhDCoordinator
BarcelonaESHG
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AIMofERNGENTURIS
Improvingtheiden@fica@on,diagnosisofawiderangeofinheritedsyndromespredisposingfortumourdevelopmentatanystageduringlifeandpreven@onofcancer.
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Identification D
iagnosis Surveillance , R
isk reducing surgery and treatm
ent Patientsatrisk
Healthcare Pa@ents ERNHealthcareproviders
GuidelinesTeachingandtraining
AllHCPsincludingGP’s
GuidelinesTeachingCare,counselingData-andbiobankingResearch
Clinicalgene@cistsMoleculardiagnos@cgene@cistsInmul@disciplinaryteamMul@pleorone-stopinves@ga@onby
GENTURISexpertteammember
Con@nuedcarewithinGENTURISorreferraltootherERNforraremanifesta@onsortogeneralcareforcommonmanifesta@ons
GuidelinesTeachingCare,counselingData-andbiobankingResearchProvideexper@seandMDAtoHCPs
HCPsrelevanttorisksandsymptomsof
CareGene@ccounseling
Mul@disciplinaryHCPexpertsDependingonsyndromeandmanifesta@ons
Pa@entempowermentCrea@nggeneralawareness
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ScopeofdiseasesInheritedsyndromespredisposingfortumourdevelopmentatanystageduringlife:• Gene@ccauseisknown• Manifesta@onsaffectmul@pleorgans• Tumourscanbebenignormalignant• Mostmalignanttumoursarecommoncancers• Iden@fica@onanddiagnosisisdifficult• Tumourpreven@on(surveillanceandrisk-reducingtreatment)requirea
mul@disciplinaryteam• Personalizedtreatmentbasedongermlinemuta@ons• Healthyrela@vesatriskdonotreceiveproperaUen@onwhenindexcaseis
notrecognized
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Thema-cgroups1. Neurofibromatosis
• NF1,NF2,Schwannomatosis
2. Lynchsyndromeandpolyposis• LynchSyndrome,Muir-TorreSyndrome• (aUenuated)familialadenomatouspolyposis• MYH-AssociatedPolyposis,DNApolymeraseproofreadingassociated-polyposis• NTLH1associatedpolyposis,TurcotSyndrome• JuvenilePolyposisSyndrome,Peutz-Jegherssyndrome• Hereditarymixedpolyposis,Serratedpolyposissyndrome
3. Hereditarybreastandovariancancer
4. Otherrare–predominantlymalignant-genturis• PTENhamartomatumoursyndromes• Li-FraumeniSyndrome• Birt-Hogg-DubéSyndrome• FAMMM• SmallCellCarcinomaoftheOvary,HypercalcaemicType• Hereditarydiffusegastriccancer(CDH1)
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Diseaseexpansionplan• Paraganglioma
• XerodermaPigmentosa
• CarneyComplex
• HereditaryPapillaryRenalCarcinoma
• Ataxia-Telangiectasia
• Tuberoussclerosis
• Bloomsyndrome
• Gastrointes@nalpolyposissyndromes
• Nevoidbasalcellcarcinomasyndrome
• WernerSyndrome
• HereditaryLeiomyomatosisandRenalCellCancer
• Newlydetectedgene@ccausesofcancer
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StructureofERNGENTURIS
ERNBoard:
Guidelines,outcomemeasuresandQualityControl
Pa@entpar@cipa@onandempowerment
Teachingandtraining
Networkingandcollabora@on
Dataregistra@onandbiobanking
Execu-vecommiQee:
Advisoryboard
Neurofibromatosis
Projectbureau
ResearchBoard
Crossborderhealthcare
Communica@onanddissemina@on
Na-onalcoordinators,
Lynchsydrome&polyposis
Hereditarybreastandovariancancer
Otherrare-predomintantlymalignant-genturis
Ethical,legalsocialimplica@ons
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WhyisthisERNnecessary?
UniquePoints:• Predisposi@onofcommoncancersofvariousorgansystems• Preven@ondirected(includingsurveillanceandrisk-reducingtreatment)and
personalizedtreatmentbasedongermlinemuta@ons.• Rela@vesincluded
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WhyisthisERNnecessary?
UniquePoints:• Predisposi@onofcommoncancersofvariousorgansystems• Preven@ondirected(includingsurveillanceandrisk-reducingtreatment)and
personalizedtreatmentbasedongermlinemuta@ons.• Rela@vesincluded
Cancernotrare
Healthyindividuals
Mul@ipleorgansystems
Cancerpreven@on
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Mul-disciplinaryProfessionals
• Inclusive,nocompe@@on,whenmee@ngthecriteria:• Na@onalendorsement• Minimumrequirements• Numbersofpa@entinthethema@cgroups• Output:research,guidelines,boards.
• Fromatleast8countriesand10centers
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ERN:Gene@cTumourRiskSyndromesExper@secenters(fullmembers)
EndorsedHCP
Endorsementlikely
Endorsement2017?
Nomemberyet
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5.ERNNetworkapplica-on
- Introduc@onandinventory: ([email protected]) Whatarethemostimportantproblemsthatneedananswernow.
- Discussionin4groups ([email protected])- Answersbypergroupin15minutes ([email protected])
- Whatwillbereadyin5yearsfromnow?- Beprac@cal,writeinbullets(nocompletesentencesneeded)
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6.HCPapplica-onandself-assessment
- Introduc@onandinventory: ([email protected]) Whatarethemostimportantproblemsthatneedananswernow.
- Discussionin4groups ([email protected])- Answersbypergroupin15minutes ([email protected])
- Whatwillbereadyin5yearsfromnow?- Beprac@cal,writeinbullets(nocompletesentencesneeded)