Skip to main content

Advertisement

Log in

Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature

  • Review Article
  • Published:
Supportive Care in Cancer Aims and scope Submit manuscript

Abstract

Purpose

The primary aim of the present study was to conduct a systematic review of short-, intermediate- and long-term psychological effects, such as anxiety, depression and distress, on individuals undergoing genetic testing to determine BRCA1 and BRCA2 gene mutation. The different instruments used for the measurement of each construct were reported. In addition, risk and protective factors associated with psychological outcomes of genetic tests were explored.

Methods

Bibliographic databases were searched for studies published over the period 1998–2018. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method, 21 articles were selected for the current review.

Results

Overall, the collected data revealed rather diverse results, although most studies reported higher levels of distress, anxiety and depression in carriers, as compared to non-carriers. The two genders were not equally represented, with men constituting only 6% of the sample. Risk factors and protective factors that may influence psychological outcomes and adjustment to genetic tests are highlighted and discussed in this review.

Conclusions

The increased risk of developing cancer associated with positive genetic testing results may be experienced as traumatic by many patients, although not all individuals with positive genetic testing results will experience increased distress. Hence, future studies should consider specific risk factors in order to select those who are more likely to be in need of psychological support. Finally, it is necessary to increase the number of male samples to better understand the male experience related to genetic testing outcomes.

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

Notes

  1. The impact of decision to undergo (or not undergo) prophylactic surgery on post-testing distress, anxiety and/or depression has been analysed only in three studies (Borreani et al. 2014; Metcalfe et al. 2012; Claes et al. 2005) with inconsistent results. Borreani found that women who undergo prophylactic surgery have higher anxiety than women who decide not to undergo; Metcalfe (2012) found exactly the opposite, and Claes did not observe differences between the two groups.

References

  1. Bjørnslett M, Dahl AA, Sørebø Ø, Dørum A (2015) Psychological distress related to BRCA testing in ovarian cancer patients. Familial Cancer 14:495–504

    Article  PubMed  Google Scholar 

  2. Borreani C, Manoukian S, Bianchi E, Brunelli C, Peissel B, Caruso A, Morasso G, Pierotti MA (2014) The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers. Clin Genet 85:7–15

    Article  CAS  PubMed  Google Scholar 

  3. Petrucelli N, Daly MB, Pal T (1998) BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. In: Adam MP, Ardinger HH, Pagon RA et al (eds) Gene Reviews. University of Washington, Seattle, Seattle (WA) https://www.ncbi.nlm.nih.gov/books/NBK1247/

    Google Scholar 

  4. NCCN. Clinical Practice Guidelines in Oncology (2014) Genetic/familial high-risk assessment: breast and ovarian. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf

  5. Stuppia L, Di Fulvio P, Aceto G, Pintor S, Veschi S, Gatta V, Colosimo A, Cianchetti E, Cama A, Mariani-Costantini R, Battista P, Palka G (2003) BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from Central Italy. Hum Mutat 22(2):178–179

    Article  CAS  PubMed  Google Scholar 

  6. MacDonald D, Sarna L, Weitzel JN, Ferrel B (2010) Women’s perceptions of personal and family impact of genetic risk assessment: focus group findings. J Genet Counsel 19:148–160

    Article  Google Scholar 

  7. Stuppia L (2012) BRCA1 and BRCA2 molecular testing in women with different risk of hereditary breast cancer: cost/effectiveness and psychological implications. Curr Womens Health Rev 8:12–16

    Article  CAS  Google Scholar 

  8. Sommaggio P (2010) La consulenza genetica: un ponte tra autopoiesi ed auto trascendimento [genetic counseling: a bridge between autopoiesis and self-transcendence]. Tigor 2:155–180

    Google Scholar 

  9. Lerman C, Shields AE (2004) Genetic testing for cancer susceptibility: the promise and the pitfalls. Nat Rev Cancer 4:235–241

    Article  CAS  PubMed  Google Scholar 

  10. Ardern-Jones A, Kenen R, Lynch E, Doherty R, Eeles R (2010) Is no news good news? Inconclusive genetic test results in BRCA1 and BRCA2 from patients and professionals' perspectives. Hered Cancer Clin Pract 8(1):1

    Article  PubMed  PubMed Central  Google Scholar 

  11. Dorval M, Bouchard K, Maunsell E, Plante M, Chiquette J, Camden S, Dugas MJ, Simard J (2008) Health behaviors and psychological distress in women initiating BRCA1/2 genetic testing: comparison with control population. J Genet Counsel 17:314–326

    Article  Google Scholar 

  12. Kinney AY, Bloor LE, Mandal D, Simonsen SE, Baty BJ, Holubkov R, Seggar K, Neuhausen S, Smith K (2005) The impact of receiving genetic test results on general and cancer-specific psychologic distress among members of an African-American kindred with a BRCA1 mutation. Cancer 104(11):2508–2516

    Article  PubMed  Google Scholar 

  13. Arver B, Haegermark A, Platten U, Lindblom A, Brandberg Y (2004) Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up. Familial Cancer 3(2):109–116

    Article  PubMed  Google Scholar 

  14. Dorval M, Gauthier G, Maunsell E, Dugas MJ, Rouleau I, Chiquette J, Plante M, Laframboise R, Gaudet M, Bridge PJ, Simard J (2005) No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result. Cancer Epidemiol Biomarkers 14(12):2862–2867

    Article  CAS  Google Scholar 

  15. Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche P, Ioannidis JP, Moher D (2009) The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. Ann Intern Med 151:65–94

    Article  Google Scholar 

  16. Moher D, Liberati A, Tetzlaff J, Altman DG (2009) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Ann Intern Med 151(4):264–269

    Article  Google Scholar 

  17. Bonadona V, Saltel P, Desseigne F, Mignotte H, Saurin JC, Wang Q, Sinilnikova O, Giraud S, Freyer G, Plauchu H, Puisieux A, Lasset C (2002) Cancer patients who experienced diagnostic genetic testing for cancer susceptibility reactions and behavior after the disclosure of a positive test result. Cancer Epidemiol Biomark Prev 11(1):97–104

    Google Scholar 

  18. Graves KD, Gatammah R, Peshkin BN, Krieger A, Gell C, Valdimarsdottir HB, Schwartz MD (2011) BRCA1/2 genetic testing uptake and psychosocial outcomes in men. Familial Cancer 10(2):213–223

    Article  PubMed  PubMed Central  Google Scholar 

  19. Lodder L, Frets PG, Trijsburg RW, Tibben A, Meijers-Heijboer EJ, Duivenvoorden HJ, Wagner A, van Der Meer CA, Devilee P, Cornelisse CJ, Niermeijer MF (2001) Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. Eur J Hum Genet 9(7):492–500

    Article  CAS  PubMed  Google Scholar 

  20. Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA (2012) Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening. Breast Cancer Res Treat 133:735–740

    Article  CAS  PubMed  Google Scholar 

  21. Power T, Robinson JW, Bridge P, Bernier FP, Gilchrist DM (2011) Distress and psychosocial needs of a heterogeneous high-risk familial cancer population. J Genet Counsel 20:249–269

    Article  Google Scholar 

  22. Smith KR, West JA, Croyle RT, Botkin JR (1999) Familial context of genetic testing for cancer susceptibility: moderating effect of siblings’ test results on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomark Prev 8(4):385–392

    CAS  Google Scholar 

  23. Claes E, Evers-Kiebooms G, Boogaerts A, Decruyenaere M, Denayer L, Legius E (2005) Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women’s looking back on the pre-test period and a psychological evaluation. Genet Test 8(1):13–21

    Article  Google Scholar 

  24. Meiser B, Butow P, Friedlander M, Barratt A, Schnieden V, Watson M, Brown J, Tucker K (2002) Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer 38(15):2025–2031

    Article  CAS  PubMed  Google Scholar 

  25. 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):107–116

    Article  PubMed  Google Scholar 

  26. Smith AW, Dougall AL, Posluszny DM, Somers TJ, Rubinstein WS, Baum A (2008) Psychological distress and quality of life associated with genetic testing for breast cancer risk. Psycho-Oncology 17(8):767–773

    Article  PubMed  Google Scholar 

  27. Cukier YR, Thompson HS, Sussner K, Forman A, Jandorf L, Edwards T, Bovbjerg DH, Schwartz MD, Valdimarsdottir HB (2012) Factors associated with psychological distress among women of African descent at high risk for BRCA mutations. J Genet Couns 22(1):101–107

    Article  PubMed  Google Scholar 

  28. Carlson LE, Angen M, Cullum J, Goodey E, Koopmans J, Lamont L, MacRae JH, Martin M, Pelletier G, Robinson J, Simpson JSA, Speca M, Tillotson L, Bultz BD (2004) High levels of untreated distress and fatigue in cancer patients. Br J Cancer 90:2297–2304

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Horowitz M, Wilner N, Alvarez W (1979) Impact of event scale: a measure of subjective stress. Psychosom Med 41:209–218

    Article  CAS  PubMed  Google Scholar 

  30. Ilfeld FW (1976) Further validation of a psychiatric symptom index in a normal population. Psychol Rep 39:1215–1228

    Article  Google Scholar 

  31. Zigmond AS, Snaith RP (1983) The hospital anxiety and depression scale. Acta Psyc Scand 67:36–370

    Article  Google Scholar 

  32. Derogatis LR, Melisaratos N (1983) The brief symptom inventory: an introductory report. Psychol Med 13:595–605

    Article  CAS  PubMed  Google Scholar 

  33. Mella S, Muzzatti B, Dolcetti R, Annunziata MA (2017) Emotional impact on the results of BRCA1 and BRCA2 genetic test: an observational retrospective study. Hered Cancer Clin Pract 15:16

    Article  PubMed  PubMed Central  Google Scholar 

  34. Bosch N, Junyent N, Gadea N, Brunet J, Ramon TC, Torres A, Graña B, Velasco A, Darder E, Mensa I, Balmaña J (2012) What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure. Breast 21:755–760

    Article  PubMed  Google Scholar 

  35. Cicero G, De Luca R, Dorangricchia P, Lo Coco G, Guarnaccia C, Fanale D, Calò V, Russo A (2017) Risk perception and psychological distress in genetic counselling for hereditary breast and/or ovarian Cancer. J Genet Couns 26(5):999–1007

    Article  CAS  PubMed  Google Scholar 

  36. Listøl W, Høberg-Vetti H, Eide GE, Bjorvatn C (2017) Anxiety and depression symptoms among women attending group-based patient education courses for hereditary breast and ovarian cancer. Hered Cancer Clin Pract 15:2

    Article  PubMed  PubMed Central  Google Scholar 

  37. Lodder LN, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JGM, Duivenvoorden HJ, Tibben A, Wagner A, van der Meer CA, Devilee P, Cornelisse CJ, Niermeijer MF (1999) Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? J Med Genet 36:906–913

    CAS  PubMed  PubMed Central  Google Scholar 

  38. Radloff LS (1977) The CES-D scale: a self-report depression scale for research in the general population. Appl Psychol Meas 1(3):385–401

    Article  Google Scholar 

  39. Beck AT, Steer RA (1993) Beck depression inventory manual. Psychol Corp, San Antonio

    Google Scholar 

  40. Spielberger C, Gorsuch F, Lushene R (1971) STAI manual for the state-trait anxiety inventory. Consulting Psychologists Press, Palo Alto, CA

    Google Scholar 

  41. Babore A, Bramanti SM, Lombardi L, Stuppia L, Trumello C, Antonucci I, Cavallo A (2019) The role of depression and emotion regulation on parenting stress in a sample of mothers with cancer. Support Care Cancer 27:1271–1277

  42. Schlich-Bakker KJ, Kroode HF, Ausems MG (2006) A literature review of the psychological impact of genetic testing on breast cancer patients. Patient Educ Couns 62(1):13–20

    Article  PubMed  Google Scholar 

  43. 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):510–518

    Article  PubMed  PubMed Central  Google Scholar 

  44. Ringwald J, Wochnowski C, Bosse K, Giel EK, Schäffeler N, Zipfel S, Teufel M (2016) Psychological distress, anxiety, and depression of Cancer-affected BRCA1/2 mutation carriers a systematic review. J Genet Counsel 25:880–891

    Article  Google Scholar 

  45. Fine BA (1999) Psychological impact of mutation testing. In: Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines. American College of Medical Genetics, Bethesda (MD)

    Google Scholar 

  46. Dudok De Wit AC, Tibben A, Frets PG, Meliers-heuboer EJ, Heliers-heuboers, Devilee P, Niermelters MF (1996) Males at-risk for the brca1-gene, the psychological impact. Psychooncology 5:251–257

    Article  Google Scholar 

  47. Moynihan C, Bancroft EK, Mitra A, Ardern-Jones A, Castro E, Page EC, Eeles RA (2017) Ambiguity in a masculine world: being a BRCA1/2 mutation carrier and a man with prostate cancer. Psychooncology 26(11):1987–1993

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C (2002) Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol 20(2):514–520

    Article  PubMed  Google Scholar 

  49. Reichelt JG, Heimdal K, Møller P, Dahl AA (2004) BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample. Familial Cancer 3(1):21–28

    Article  PubMed  Google Scholar 

Download references

Funding

The authors did not receive any funding for any of the steps taken to write this review.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Alessandra Babore.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lombardi, L., Bramanti, S.M., Babore, A. et al. Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature. Support Care Cancer 27, 3647–3656 (2019). https://doi.org/10.1007/s00520-019-04918-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00520-019-04918-7

Keywords

Navigation