Familial Cancer

, Volume 10, Issue 2, pp 193–197

A clinical perspective on genetic counseling and testing during end of life care for women with recurrent progressive ovarian cancer: opportunities and challenges

  • Molly S. Daniels
  • Jennifer K. Burzawa
  • Amanda C. Brandt
  • Kathleen M. Schmeler
  • Karen H. Lu
Article

Abstract

10–15% of invasive epithelial ovarian cancer is attributable to hereditary breast and ovarian cancer. The identification of BRCA1/BRCA2 mutations in women with ovarian cancer allows for accurate predictive genetic testing of their at-risk relatives, who can then avail themselves of early detection and risk reduction strategies. In the case of women with recurrent progressive ovarian cancer, the window of opportunity for genetic testing can be particularly limited. Here we describe our perspective on providing genetic counseling during these patients’ end of life care, incorporating two illustrative examples from our clinical practice. While these situations pose unique challenges, they also present a significant opportunity to benefit the patient and her family. Further attention and research should be directed towards provision of genetic counseling and testing during end of life care.

Keywords

Ovarian cancer BRCA1 BRCA2 Genetic testing Genetic counseling Recurrent cancer End of life issues 

References

  1. 1.
    Malander S et al (2004) One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur J Cancer 40(3):422–428PubMedCrossRefGoogle Scholar
  2. 2.
    Pal T et al (2005) BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 104(12):2807–2816PubMedCrossRefGoogle Scholar
  3. 3.
    Risch HA et al (2001) Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68(3):700–710PubMedCrossRefGoogle Scholar
  4. 4.
    Hampel H et al (2006) Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 66(15):7810–7817PubMedCrossRefGoogle Scholar
  5. 5.
    Hampel H et al (2005) Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352(18):1851–1860PubMedCrossRefGoogle Scholar
  6. 6.
    Hampel H et al (2007) Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 67(19):9603PubMedCrossRefGoogle Scholar
  7. 7.
    Malone KE et al (2006) Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res 66(16):8297–8308PubMedCrossRefGoogle Scholar
  8. 8.
    Antoniou A et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117–1130PubMedCrossRefGoogle Scholar
  9. 9.
    Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333PubMedCrossRefGoogle Scholar
  10. 10.
    Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast cancer linkage consortium. Am J Hum Genet 56(1):265–271PubMedGoogle Scholar
  11. 11.
    Ford D et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62(3):676–689PubMedCrossRefGoogle Scholar
  12. 12.
    Kauff ND et al (2008) Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 26(8):1331–1337PubMedCrossRefGoogle Scholar
  13. 13.
    Domchek SM et al (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975PubMedCrossRefGoogle Scholar
  14. 14.
    Kwon JS et al (2010) Preventing future cancers by testing women with ovarian cancer for BRCA mutations. J Clin Oncol 28(4):675–682PubMedCrossRefGoogle Scholar
  15. 15.
    Ozols RF et al 2005 Epithelial ovarian cancer, in principles and practice of gynecologic oncology. In: Hoskins WJ et al (ed) Lippincott Williams and Wilkins, Philadelphia, pp 895–988Google Scholar
  16. 16.
    Meyer LA et al (2010) Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities. Obstet Gynecol 115(5):945–952PubMedCrossRefGoogle Scholar
  17. 17.
    Daniels MS et al (2009) Timing of BRCA1/BRCA2 genetic testing in women with ovarian cancer. Genet Med 11(9):624–628PubMedCrossRefGoogle Scholar
  18. 18.
    Kirk J (2004) The family history of cancer: a common concern in palliative care. Prog Palliat Care 12(2):59–65CrossRefGoogle Scholar
  19. 19.
    Lacour RA et al (2008) What women with ovarian cancer think and know about genetic testing. Gynecol Oncol 111(1):132–136PubMedCrossRefGoogle Scholar
  20. 20.
    Audeh MW et al (2010) Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 376(9737):245–251PubMedCrossRefGoogle Scholar
  21. 21.
    von Gruenigen VE, Daly BJ (2005) Treating ovarian cancer patients at the end of life: when should we stop? Gynecol Oncol 99(2):255–256CrossRefGoogle Scholar
  22. 22.
    Quillin J et al (2010) Exploring hereditary cancer among dying cancer patients—a cross-sectional study of hereditary risk and perceived awareness of DNA testing and banking. J Genet Couns 19(5):497–525PubMedCrossRefGoogle Scholar
  23. 23.
    Quillin JM, Bodurtha JN, Smith TJ (2008) Genetics assessment at the end of life: suggestions for implementation in clinic and future research. J Palliat Med 11(3):451–458PubMedCrossRefGoogle Scholar
  24. 24.
    Lillie AK (2006) Exploring cancer genetics and care of the family: an evolving challenge for palliative care. Int J Palliat Nurs 12(2):70–74PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • Molly S. Daniels
    • 1
    • 2
  • Jennifer K. Burzawa
    • 1
  • Amanda C. Brandt
    • 1
    • 2
  • Kathleen M. Schmeler
    • 1
  • Karen H. Lu
    • 1
  1. 1.U.T.M.D. Anderson Cancer Center, Department of Gynecologic OncologyUnit 1362HoustonUSA
  2. 2.U.T.M.D. Anderson Cancer Center, Clinical Cancer Genetics ProgramUnit 1362HoustonUSA

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