Brystkreft, arvelig: Genetisk veiledning og gentesting
Hvis du har en familiehistorie med økt forekomst av brystkreft eller andre krefttyper eller du har fått brystkreft i ung alder, kan det være aktuelt å ta en blodprøve for å se om det foreligger mutasjoner i BRCA eller andre gener. Diskuter problemstillingen med behandlende lege, som eventuelt kan henvise deg til en genetisk rådgiver. En genetisk rådgiver gir veiledning og info om hva en slik prøve innebærer. Rådgiveren vil ta stilling til om det bør tas andre genprøver. Når svarene foreligger, vil rådgiveren gi deg og legen din veiledning om hva du bør gjøre.
Friske som ønsker genetisk utredning på grunn av brystkreft hos slektning, informeres om at det helst bør gjennomføres en utredning av den/de i familien som har hatt kreft. Slik vil undersøkelsen gi mest mulig informasjon.
Hensikten med å gjøre genetisk utredning og gentesting av brystkreftpasienter er todelt:
- Identifisere personer med arvelig kreft med tanke på forebygging av ny kreftsykdom hos vedkommende og hos slektninger
- En genfeil kan ha betydning for valg av behandling ved brystkreft
Personer med brystkreft og ett av følgende, tilbys gentest for BRCA1/2:
- Kvinne med brystkreft ved 60 års alder eller yngre
- Mann med brystkreft uansett alder
- Kvinne med eggstokkreft
- Dersom familiehistorien gir grunn til mistanke om BRCA-genfeil
Medisinsk genetiske avdelinger i Norge tilbyr også veiledning og eventuelt gentest til kvinner som ikke har hatt brystkreft når det foreligger mistanke om arvelig brystkreft. Det kan være om de er førstegradsslektning til en person med følgende:
- Kvinne 50 år eller yngre med brystkreft
- Kvinne 60 år eller yngre med brystkreft i begge bryster
- Kvinne 60 år eller yngre med brystkreft som ikke er hormonfølsom (trippel negativ brystkreft)
- Mann med brystkreft uansett alder
- Kvinne med eggstokkreft, uansett alder
- Kvinne med brystkreft og familiehistorie som følger:
- En nær slektning med brystkreft ved 55 års alder eller tidligere
- To nære slektninger på samme side av familien med brystkreft
- Nær slektning med eggstokkreft
- Nær slektning med prostatakreft ved 55 års alder eller tidligere
Med nære slektninger menes førstegradsslektninger (eksempelvis søster, datter), eventuelt andregradsslektninger via mann (eksempelvis fars mor, fars søster). Det anbefales i første omgang at den eller de i familien som har hatt brystkreft eller annen relevant kreftsykdom involveres i utredningen.
Dette dokumentet er basert på det profesjonelle dokumentet Brystkreft . Referanselisten for dette dokumentet vises nedenfor
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