ERN: GENTURIS Gene-c Tumour Risk Syndromes - eshg.org · ERN: GENTURIS Gene-c Tumour Risk Syndromes...

ERN:GENTURISGene-cTumourRiskSyndromes

ProfNicolineHoogerbruggeMD,PhDCoordinator

BarcelonaESHG

AIMofERNGENTURIS

Improvingtheiden@fica@on,diagnosisofawiderangeofinheritedsyndromespredisposingfortumourdevelopmentatanystageduringlifeandpreven@onofcancer.

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

ScopeofdiseasesInheritedsyndromespredisposingfortumourdevelopmentatanystageduringlife:•  Gene@ccauseisknown•  Manifesta@onsaffectmul@pleorgans•  Tumourscanbebenignormalignant•  Mostmalignanttumoursarecommoncancers•  Iden@fica@onanddiagnosisisdifficult•  Tumourpreven@on(surveillanceandrisk-reducingtreatment)requirea

mul@disciplinaryteam•  Personalizedtreatmentbasedongermlinemuta@ons•  Healthyrela@vesatriskdonotreceiveproperaUen@onwhenindexcaseis

notrecognized

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)

Diseaseexpansionplan•  Paraganglioma

•  XerodermaPigmentosa

•  CarneyComplex

•  HereditaryPapillaryRenalCarcinoma

•  Ataxia-Telangiectasia

•  Tuberoussclerosis

•  Bloomsyndrome

•  Gastrointes@nalpolyposissyndromes

•  Nevoidbasalcellcarcinomasyndrome

•  WernerSyndrome

•  HereditaryLeiomyomatosisandRenalCellCancer

•  Newlydetectedgene@ccausesofcancer

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

WhyisthisERNnecessary?

UniquePoints:•  Predisposi@onofcommoncancersofvariousorgansystems•  Preven@ondirected(includingsurveillanceandrisk-reducingtreatment)and

personalizedtreatmentbasedongermlinemuta@ons.•  Rela@vesincluded

WhyisthisERNnecessary?

UniquePoints:•  Predisposi@onofcommoncancersofvariousorgansystems•  Preven@ondirected(includingsurveillanceandrisk-reducingtreatment)and

personalizedtreatmentbasedongermlinemuta@ons.•  Rela@vesincluded

Cancernotrare

Healthyindividuals

Mul@ipleorgansystems

Cancerpreven@on

Mul-disciplinaryProfessionals

•  Inclusive,nocompe@@on,whenmee@ngthecriteria:•  Na@onalendorsement•  Minimumrequirements•  Numbersofpa@entinthethema@cgroups•  Output:research,guidelines,boards.

•  Fromatleast8countriesand10centers

ERN:Gene@cTumourRiskSyndromesExper@secenters(fullmembers)

EndorsedHCP

Endorsementlikely

Endorsement2017?

Nomemberyet

5.ERNNetworkapplica-on

-  Introduc@onandinventory: (un@l09.45u) Whatarethemostimportantproblemsthatneedananswernow.

-  Discussionin4groups (un@l10.45u)-  Answersbypergroupin15minutes (un@l12.00u)

-  Whatwillbereadyin5yearsfromnow?-  Beprac@cal,writeinbullets(nocompletesentencesneeded)

6.HCPapplica-onandself-assessment

-  Introduc@onandinventory: (un@l10.45u) Whatarethemostimportantproblemsthatneedananswernow.

-  Discussionin4groups (un@l11.45u)-  Answersbypergroupin15minutes (un@l13.00u)

-  Whatwillbereadyin5yearsfromnow?-  Beprac@cal,writeinbullets(nocompletesentencesneeded)