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Der Chirurg

, Volume 76, Issue 12, pp 1145–1154 | Cite as

Prophylaktische Chirurgie des Mamma- und Ovarialkarzinoms

  • M. P. LuxEmail author
  • M. R. Bani
  • P. A. Fasching
  • M. W. Beckmann
Leitthema

Zusammenfassung

In den vergangenen Jahren konnten neue Erkenntnisse über die genetischen Grundlagen der Karzinogenese infolge moderner molekular-biologischer Techniken gewonnen werden. Zahlreiche prädisponierende Gene wurden bereits beschrieben. Das hereditäre Mamma- und Ovarialkarzinomsyndrom (Mutationen in den BRCA1/2-Genen) als auch das Endometriumkarzinom in Zusammenhang mit dem hereditären Nonpolyposis-Kolonkarzinom- (HNPCC-)Syndrom sind die häufigsten hereditären Karzinome im Bereich der Gynäkologie. Mutationen in TP53 (Li-Fraumeni-Syndrom) und PTEN (Cowden-Syndrom) sind mit einem erhöhten Mammakarzinomrisiko assoziiert, jedoch jeweils nur für einen kleinen Teil der hereditären Mammakarzinome verantwortlich.

Die Vererbungswahrscheinlichkeit und das Erkrankungsrisiko können durch die Erhebung des Familienstammbaumes, Nutzung von Risikoberechnungsprogrammen und Durchführung genetischer Analysen näher identifiziert und definiert werden. Folgend können Maßnahmen der primären, sekundären und tertiären Prävention eingeleitet werden. Die einzige Maßnahme, welche das Erkrankungsrisiko bei Vorliegen einer Mutation in den prädisponierenden Genen nachweislich senken konnte, ist aktuell die prophylaktische Chirurgie.

Schlüsselwörter

Prophylaxe Mastektomie Ovarektomie BRCA Familiäres Risiko Mammakarzinom Ovarialkarzinom 

Prophylactic surgery of mammary and ovarian carcinoma

Abstract

New insights into the genetic basis of carcinogenesis have been obtained by modern molecular biological techniques. Several susceptibility genes are known. The hereditary breast and ovarian cancer syndrome (germline mutations in BRCA1 and BRCA2) and endometrial cancer in the context of the hereditary nonpolyposis colorectal cancer syndrome (HNPCC), germline mutations in mismatch-repair genes, are the most frequent hereditary cancer syndromes in gynaecology. Mutations in TP53 (Li-Fraumeni syndrome) and PTEN (Cowden’s disease), associated with increased risk of breast cancer, are responsible for a smaller portion of familial breast cancer.The risk of inheritance and disease can be identified and defined by investigating family history, risk calculation programs, and genetic testing. Afterwards, options of primary, secondary, and tertiary prevention can be formulated. Presently, prophylactic surgery is the only option proven by clinical trials that can reduce the mortality of hereditary breast and ovarian cancer.

Keywords

Prophylaxis Mastectomy Ovariectomy BRCA Familial risk Breast cancer Ovarian cancer 

Notes

Interessenkonflikt:

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Copyright information

© Springer Medizin Verlag 2005

Authors and Affiliations

  • M. P. Lux
    • 1
    • 2
    Email author
  • M. R. Bani
    • 1
  • P. A. Fasching
    • 1
  • M. W. Beckmann
    • 1
  1. 1.FrauenklinikUniversitätsklinikum Erlangen
  2. 2.FrauenklinikUniversitätsklinikum ErlangenErlangen

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