Experiences and interpretations of BRCA1/2 testing among women affected by breast or ovarian cancer who received a negative result

  • Lesley StaffordEmail author
  • Alison Flehr
  • Fiona Judd
  • Geoffrey J. Lindeman
  • Penny Gibson
  • Angela Komiti
  • G. Bruce Mann
  • Maira Kentwell
Original Article


The aim of this study was to retrospectively describe the genetic testing motives and experiences of women with a previous breast and/or ovarian cancer diagnosis, who received negative BRCA1/2 results including variants of unknown significance and no pathogenic variant detected. One hundred and thirteen women (mean age 56.17 years) were recruited from a familial cancer centre in metropolitan Australia, an average 3.4 years after undergoing testing. Participants completed a self-report questionnaire focusing on the retrospective experience of and motives for undergoing BRCA1/2 testing. The study found that the primary motives for undergoing BRCA1/2 testing were (a) to know more about whether their cancer was hereditary, and (b) to have more certainty about the risk of their children developing cancer. In terms of perceptions of personal risk, 35% of women perceived that their risk of breast cancer to be the same or lower than the general population and 80% believed the negative test result to mean that a risk-conferring gene had not been detected. Yet, the average estimate of the likelihood that their cancer was hereditary was 48 out of a possible 100. Psychologically, women did not interpret the negative BRCA1/2 result as a positive outcome. Half were not relieved by the result and were as or more worried than before. Psychological morbidity was high with 17%, 100%, and 36% experiencing clinically significant depression, anxiety, and cancer-specific distress, respectively. Self-ratings of the likelihood that their cancer was hereditary were more closely associated with their personal family cancer histories than with measures of psychological distress. These results have implications for adherence to risk-reducing behaviours and quality of life. Given that these women are not routinely followed up in clinical practice, these findings highlight the importance of post-test genetic counselling and longer-term follow-up for women with negative BRCA1/2 results. Additional time and emotional support from genetic counsellors may help this group of women make sense of the meaning of their test result and adjust psychologically, particularly to uncertainty around the cause of their family history.


Breast/ovarian cancer BRCA1/2 Negative result Genetic testing Motives Experiences 



The authors thank Dr. Michael Bogwitz for assistance with data retrieval, Ms. Michelle Sinclair for assistance with data cleaning; and Dr. Ruth Little for assistance with data retrieval and proofreading.

Funding information

The Collier Charitable Trust gave generous contribution towards funding this work.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants included in the study.

Animal studies

No animal studies were carried out by the authors for this article.


  1. Antoniou A, Pharoah P, Narod S, Risch HA, Eyfjord JE, Hopper J 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):1117–1130CrossRefGoogle Scholar
  2. Australian Bureau of Statistics (2008) National survey of mental health and wellbeing, 2007. ABS, Canberra Google Scholar
  3. Baruch Y, Holtom BC (2008) Survey response rate levels and trends in organizational research. Hum Relat 61(8):1139–1160CrossRefGoogle Scholar
  4. Beran TM, Stanton AL, Kwan L, Seldon J, Bower JE, Vodermaier A, Ganz PA (2008) The trajectory of psychological impact in BRCA1/2 genetic testing: does time heal? Ann Behav Med 36(2):107–116CrossRefGoogle Scholar
  5. Bjelland I, Dahl AA, Haug TT, Neckelmann D (2002) The validity of the hospital anxiety and depression scale: an updated literature review. J Psychosom Res 52(2):69–77Google Scholar
  6. Bowen D, McTiernan A, Burke W, Powers D, Pruski J, Durfy S et al (1999) Participation in breast cancer risk counseling among women with a family history. Cancer Epidemiol Biomark Prev 8(7):581–585Google Scholar
  7. Brain K, Gray J, Norman P, Parsons E, Clarke A, Rogers C et al (2000) Why do women attend familial breast cancer clinics? J Med Genet 37(3):197–202CrossRefGoogle Scholar
  8. Bredart A, Kop J, Depauw A, Caron O, Sultan S, Leblond D et al (2013) Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer. Br J Cancer 108(5):1012–1020CrossRefGoogle Scholar
  9. Buchanan T, Johnson JA, Goldberg LR (2005) Implementing a five-factor personality inventory for use on the internet. Eur J Psychol Assess 21(2):116–128Google Scholar
  10. Caan B, Sternfeld B, Gunderson E, Coates A, Quesenberry C, Slattery ML (2005) Life after Cancer epidemiology (LACE) study: a cohort of early stage breast cancer survivors (United States). Cancer Causes Control 16(5):545–556CrossRefGoogle Scholar
  11. Cancer Council Australia (2017a) Cancer council | about cancer | breast. [online] Available at:
  12. Cancer Council Australia (2017b) Cancer council | about cancer | ovarian. [online] Available at:
  13. Ganz PA, Rowland JH, Desmond K, Meyerowitz BE, Wyatt GE (1998) Life after breast cancer: understanding women's health-related quality of life and sexual functioning. J Clin Oncol 16(2):501–514CrossRefGoogle Scholar
  14. Goldberg LR (1999) A broad-bandwidth, public domain, personality inventory measuring the lower-level facets of several five-factor models. In: Mervielde I, Deary IJ, Fruyt FD, Ostendorf F (eds) Personality psychology in Europe, vol 7, edn. Tilburg University Press, Tilburg, pp 7–28Google Scholar
  15. Goldberg LR, Johnson JA, Eber HW, Hogan R, Ashton MC, Cloninger CR et al (2006) The international personality item pool and the future of public-domain personality measures. J Res Pers 40(1):84–96Google Scholar
  16. Gow AJ, Whiteman MC, Pattie A, Deary IJ (2005) Goldberg’s ‘IPIP’Big-Five factor markers: internal consistency and concurrent validation in Scotland. Pers Individ Dif 39(2):317–29Google Scholar
  17. Gross CP, Filardo G, Mayne ST, Krumholz HM (2005) The impact of socioeconomic status and race on trial participation for older women with breast cancer. Cancer 103(3):483–491CrossRefGoogle Scholar
  18. Hamilton JG, Lobel M, Moyer A (2009) Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review. Health Psychol 28(4):510–518CrossRefGoogle Scholar
  19. Hanoch Y, Miron-Shatz T, Rolison JJ, Ozanne E (2014) Understanding of BRCA1/2 genetic tests results: the importance of objective and subjective numeracy. Psychooncology 23(10):1142–1148CrossRefGoogle Scholar
  20. Horowitz M, Wilner N, Alvarez W (1979) Impact of event scale: a measure of subjective stress. Psychosom Med 41(3):209–218CrossRefGoogle Scholar
  21. Jayson GC, Kohn EC, Kitchener HC, Ledermann JA (2014) Ovarian cancer. Lancet 384(9951):1376–1388CrossRefGoogle Scholar
  22. Jeffers L, Morrison PJ, McCaughan E, Fitzsimons D (2014) Maximising survival: the main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2. Eur J Oncol Nurs 18(4):411–418CrossRefGoogle Scholar
  23. Jensen RE, Moinpour CM, Keegan TH, Cress RD, Wu X-C, Paddock LE et al (2016) The measuring your health study: leveraging community-based cancer registry recruitment to establish a large, diverse cohort of cancer survivors for analyses of measurement equivalence and validity of the Patient Reported Outcomes Measurement Information System®(PROMIS®) Short Form Items. Psychol Test Assess Model 58(1):99Google Scholar
  24. Joseph S (2000) Psychometric evaluation of Horowitz’s impact of event scale: a review. J Trauma Stress 13(1):101–113CrossRefGoogle Scholar
  25. Julian-Reynier C, Eisinger F, Chabal F, Aurran Y, Bignon Y-J, Nogues C et al (1998) Cancer genetic clinics: why do women who already have cancer attend? Eur J Cancer 34(10):1549–1553CrossRefGoogle Scholar
  26. Kalia M (2015) Biomarkers for personalized oncology: recent advances and future challenges. Metabolism 64(3):S16–S21CrossRefGoogle Scholar
  27. Karakasis K, Burnier JV, Bowering V, Oza AM, Lheureux S (2016) Ovarian cancer and BRCA1/2 testing: opportunities to improve clinical care and disease prevention. Front Oncol 6:119CrossRefGoogle Scholar
  28. Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips K-A, Mooij TM, Roos-Blom M-J et al (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317(23):2402–2416CrossRefGoogle Scholar
  29. Lindberg P, Netter P, Koller M, Steinger B, Klinkhammer-Schalke M (2017) Breast cancer survivorsrecollection of their quality of life: identifying determinants of recall bias in a longitudinal population-based trial. PLoS One 12(2):e0171519CrossRefGoogle Scholar
  30. Maheu C, Thorne S (2008) Receiving inconclusive genetic test results: an interpretive description of the BRCA1/2 experience. Res Nurs Health 31(6):553–562CrossRefGoogle Scholar
  31. Narod SA (2002) Modifiers of risk of hereditary breast and ovarian cancer. Nat Rev Cancer 2(2):113–123CrossRefGoogle Scholar
  32. NBOCC (2010) Advice about familial aspects of breast cancer and epithelial ovarian cancer: a guide for health professionals: December 2010. Surrey Hills, NSW.: National Breast Cancer and Ovarian CentreGoogle Scholar
  33. O’neill SC, Rini C, Goldsmith RE, Valdimarsdottir H, Cohen LH, Schwartz MD (2009) Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes. Psychooncology 18(10):1088–1096CrossRefGoogle Scholar
  34. Radloff LS (1977) The CES-D scale: a self-report depression scale for research in the general population. Appl Psychol Meas 1(3):385–401Google Scholar
  35. Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI et al (2014) Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet 15:55. CrossRefGoogle Scholar
  36. Singer S, Kuhnt S, Götze H, Hauss J, Hinz A, Liebmann A et al (2009) Hospital anxiety and depression scale cutoff scores for cancer patients in acute care. Br J Cancer 100(6):908–12Google Scholar
  37. Sheppard VB, Mays D, LaVeist T, Tercyak KP (2013) Medical mistrust influences black women’s level of engagement in BRCA1/2 genetic counseling and testing. J Natl Med Assoc 105(1):17–22Google Scholar
  38. Stafford L, Judd F, Gibson P, Komiti A, Mann GB, Quinn M (2015) Anxiety and depression symptoms in the 2 years following diagnosis of breast or gynaecologic cancer: prevalence, course and determinants of outcome. Support Care Cancer 23(8):2215–2224CrossRefGoogle Scholar
  39. Tao Z, Shi A, Lu C, Song T, Zhang Z, Zhao J (2015) Breast cancer: epidemiology and etiology. Cell Biochem Biophys 72(2):333–338CrossRefGoogle Scholar
  40. Thewes B, Meiser B, Hickie IB (2001) Psychometric properties of the impact of event scale amongst women at increased risk for hereditary breast cancer. Psychooncology 10(6):459–468CrossRefGoogle Scholar
  41. Van Asperen C, Van Dijk S, Zoeteweij MW, Timmermans D, De Bock G, Meijers-Heijboer E et al (2002) What do women really want to know? Motives for attending familial breast cancer clinics. J Med Genet 39(6):410–414CrossRefGoogle Scholar
  42. Vodermaier A, Linden W, Siu C (2009) Screening for emotional distress in cancer patients: a systematic review of assessment instruments. J Natl Cancer Inst 101(21):1464–1488CrossRefGoogle Scholar
  43. Vos J, Gómez-García E, Oosterwijk JC, Menko FH, Stoel RD, van Asperen CJ et al (2012a) Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees’ perception, the medical impact by the pathogenic or uninformative BRCA1/2-result. Psychooncology 21(1):29–42CrossRefGoogle Scholar
  44. Vos J, Oosterwijk JC, Gomez-Garcia E, Menko FH, Collee MJ, van Asperen CJ et al (2012b) Exploring the short-term impact of DNA-testing in breast cancer patients: the counselees’ perception matters, but the actual BRCA1/2 result does not. Patient Educ Couns 86(2):239–251CrossRefGoogle Scholar
  45. Zigmond AS, Snaith RP (1983) The hospital anxiety and depression scale. Acta Psychiatr Scand 67(6):361–70Google Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Centre for Women’s Mental HealthRoyal Women’s HospitalParkvilleAustralia
  2. 2.Melbourne School of Psychological SciencesUniversity of MelbourneMelbourneAustralia
  3. 3.Department of PsychiatryUniversity of MelbourneMelbourneAustralia
  4. 4.The Walter and Eliza Hall Institute of Medical ResearchMelbourneAustralia
  5. 5.Parkville Familial Cancer CentreMelbourneAustralia
  6. 6.Centre for Women’s Mental Health, Royal Women’s Hospital & Department of PsychiatryUniversity of MelbourneMelbourneAustralia
  7. 7.Department of SurgeryUniversity of MelbourneMelbourneAustralia
  8. 8.Victorian Comprehensive Cancer CentreMelbourneAustralia

Personalised recommendations