Skip to main content

Genetische Beratung bei gynäkologischen Erkrankungen

  • Chapter
Die Gynäkologie
  • 126 Accesses

Zusammenfassung

Die genetische Beratung und Diagnostik in der Gynäkologie hat den Zweck, Risikokollektive für erblich bedingte gynäkologische Krankheiten zu identifizieren und die Ratsuchenden einer effektiven, risikoadaptierten Früherkennung zuzuführen. Dies gilt besonders für Krebserkrankungen, weil hier Langzeitprognosen durch Entdeckung von Frühstadien verbessert werden können. Bei gutartigen gynäkologischen Krankheiten sind mögliche genetische Aspekte weniger von praktischer Bedeutung, weil das Leben der Patientinnen nicht bedroht wird und sich die Behandlung am klinischen Verlauf orientiert.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

Literatur

  • Armes LE, Egan M, Southey MC, Dite GS, McCredie M, Giles GG, Hopper JL, Venter DJ (1998) The histologic phenotypes of breast carcinoma occurring before age 4o years in worn-en with and without BRCAI or BRCA2 germline mutations. Cancer 83: 2335–2345

    Article  PubMed  CAS  Google Scholar 

  • Bachmann K-D, Bartram CR, Chang-Claude J, Fonatsch C, Propping P (Wissenschaftlicher Beirat der Bundesärztekammer; 1998 ) Richtlinien zur Diagnostik der genetischen Disposition für Krebserkrankungen. Deutsches Ärzteblatt 95: 1020–1027

    Google Scholar 

  • Casey G (1997) The BRCAI and BRCA2 breast cancer genes. Current opinion in Oncology 9: 88–93

    Article  PubMed  CAS  Google Scholar 

  • dos Reis RM, de Sa MF, de Moura MD, Nogueira AA, Ribeiro JU, Ramos ES, Ferriani RA (1999) Familial risk among patients with endometriosis. Journal of assisted Reproduction and Genetics 16 (9): 500–503

    Article  PubMed  Google Scholar 

  • Easton DF, Steele L, Fields P et al. (1997) Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13g12–13. Am J Hum Genet 61 (1): 120–128

    Article  PubMed  CAS  Google Scholar 

  • Eng C (1998) Genetics of Cowden syndrome: through the looking glass of oncology. International Journal of Oncology 12 (3): 701–710

    PubMed  CAS  Google Scholar 

  • Evans DGR, Anderson E, Lalloo F et al. (1999) Utilisation of prophylactic mastectomy in 10 European centres. Disease Markers 15: 148–151

    PubMed  CAS  Google Scholar 

  • Fisher B, Costantino JP, Wickerham DL et al. (1998) Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 study. Journal of the National Cancer Institue 90 (18): 1371–1388

    Article  CAS  Google Scholar 

  • Ford D, Easton DF, Stratton M et al. (1998) Genetic heterogeneity and penetrance analysis of the BRCAI and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62 (3): 676–689

    Article  PubMed  CAS  Google Scholar 

  • Gayther SA, Ponder BA (1997) Mutations of the BRCAI and BRCA2 genes and the possibilities for predictive testing. Mol Med Today 3 (4): 168–174

    Article  PubMed  CAS  Google Scholar 

  • Gould RL, Lynch HT, Smith RA, McCarthy JF (1997) Cancer and Genetics. Answering your patients questions. Huntington, New York: PRR inc.

    Google Scholar 

  • Grann VR, Panageas KS, Whang W, Antman KH, Neugut AI (1998) Decision analysis of prophylactic mastectomy and oophorectomy in BRCAI-positive or BRCA2-positive patients. Journal of Clinical Oncology 16 (3): 979–985

    PubMed  CAS  Google Scholar 

  • Gruber SB, Thompson (1996) A population-based study of endometrial cancer and familial risk in younger women. Cancer and Steroid Hormone Study Group. Cancer Epidemiology, Biomarkers and Prevention 5 (6): 411–417

    CAS  Google Scholar 

  • Hemmininki K, Dong C,Vaittinin P (1999) Familial risks in cervical cancer: is there a hereditary component? International Journal of Cancer 82 (6): 775–781

    Article  Google Scholar 

  • Hisada M, Garber JE, Fung CY, Fraumeni JF, Li FP (1998) Multiple primary cancers in families with Li-Fraumeni syndrome. Journal of the National Cancer Institute 90 (8): 606–611

    Article  PubMed  CAS  Google Scholar 

  • Kuhl CK, Schmutzler RK, Leutner CC et al. (2000) Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 215 (1): 267–279

    Article  PubMed  CAS  Google Scholar 

  • Marozzi A, Vegetti W, Manfredini E et al. (2000) Association between idiopathic premature ovarian failure and fragile X premutation. Human Reproduction 15 (1): 197–202

    Article  PubMed  CAS  Google Scholar 

  • Meiser B, Butow P, Friedlander M et al. (2000) Intention to undergo prophylactic bilateral mastectomy in women at increased risk of developing hereditary breast cancer. J Clin Oncol 18 (11): 2250–2257

    PubMed  CAS  Google Scholar 

  • Niederacher D, Kiechle M, Arnold N (1998) Molekular-und zytogenetische Techniken in der Onkologie. Gynäkologe 31: 1019–1032

    Article  Google Scholar 

  • Nielsson P, Moeller L, Koester A, Hollnagel H (1997) Social and biological predictors of early menopause: a model for premature aging 242 (4): 299–305

    Google Scholar 

  • Peto J, Collins N, Barfoot R et al. (1999) Prevalence of BRCA1 and BRCA2 Gene Mutations in Patients With Early-Onset Breast Cancer. Journal of the National Cancer Institute 91 (11): 943–949

    Article  PubMed  CAS  Google Scholar 

  • Phillips KA (1998) Breast carcinoma in carriers of BRCAI or BRCA2 mutations. Cancer 83: 2251–2254

    Article  PubMed  CAS  Google Scholar 

  • Powles T, Eeles R, Ashley S et al. (1998) Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial. Lancet 352 (9122): 98–101

    Article  PubMed  CAS  Google Scholar 

  • Rebbeck TR, Levin AM, Eisen A et al. (1999) Breast cancer risk after bilateral prophylactic oophorectomy in BRCAI mutation carriers. J Natl Cancer Inst 91: 1475–1479

    Article  PubMed  CAS  Google Scholar 

  • Schmutzler RK, Beckmann MW, Kiechle M (2001) Konsensus-papier: Empfohlene klinische Maßnahmen bei familiärer

    Google Scholar 

  • Belastung für Brust-und Eierstockkrebs 2001. Konsortium Familiärer Brust-und Eierstockkrebs der Deutschen Krebshilfe, Thomas-Mann-Str. 40, 353–111 Bonn

    Google Scholar 

  • Schmutzler RK, Kempe A, Kiechle M, Beckmann MW (1999) Gegenwärtiger Stand der klinischen Beratung und Betreuung von Frauen mit einer erblichen Disposition für das Mammakarzinom. Dtsch Med Wochenschr 124 (18): 563–566

    Article  PubMed  CAS  Google Scholar 

  • Schrag D, Kuntz KM, Garber JE, Weeks JC (1997) Decision analysis–effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCAI or BRCA2 mutations. N Engl J Med 336 (20): 1465–1471

    Article  PubMed  CAS  Google Scholar 

  • Schupf N, Zigman W, Kapell D, Lee JH, Kline J, Levin B (1997) Early menopause in women with Down’s syndrome. Journal of Intellectual Disability Research 41 (Pt 3): 264–267

    Article  PubMed  Google Scholar 

  • Struewing JP, Hartge P, Wacholder Set al. (1997) The risk of cancer associated with specific mutations of BRCAI and BRCA2 among Ashkenazi Jews. N Engl J Med 336 (20): 1401–1408

    Article  PubMed  CAS  Google Scholar 

  • Veronesi U, Maisonneuve P, Costa A et al. (1998) Prevention of breast cancer with tamoxifen: preliminary findings from the Italian randomised trial among hysterectomised women. Italian Tamoxifen Prevention Study. Lancet 352 (9122): 93–97

    Article  PubMed  CAS  Google Scholar 

  • Worsham MJ, Nathanson SD, Pals G, Christopherson P, Strunk M, Wolman SR (1998) A new BRCAI mutation in a Filipino woman with a familiy history of breast and ovarian cancer. Diagnostic Molecular Pathology 7 (3): 164–167

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2003 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Prieshof, B., Costa, S.D. (2003). Genetische Beratung bei gynäkologischen Erkrankungen. In: Kaufmann, M., Costa, S.D., Scharl, A. (eds) Die Gynäkologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-11496-4_47

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-11496-4_47

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-11497-1

  • Online ISBN: 978-3-662-11496-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics