Skip to main content

How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial

Abstract

Background

Emotional distress associated with genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is reported to interfere with adherence to treatment and prophylactic measures and compromise quality of life.

Objectives

To determine levels of anxiety, depression, and quality of life in patients tested for pathogenic BRCA1/2 mutations and identify risk factors for the development of adverse psycho-emotional effects.

Methods

Cross-sectional observational trial involving 178 breast or ovarian cancer patients from a referral cancer hospital in Northeastern Brazil. Information was collected with the Hospital Anxiety and Depression Scale (HADS) and the World Health Organization (WHO) Quality of Life (QoL) questionnaire (WHOQOL-BREF).

Results

Patients suspected of HBOC had higher levels of anxiety than depression. The presence of (probably) pathogenic BRCA1/2 mutations did not affect levels of anxiety and depression. High schooling, history of psychiatric disease, and use of psychotropic drugs were directly associated with high anxiety. High schooling was too inversely associated with QoL as such a breast tumor. Anxiety and depression were directly correlated and both reduced significantly QoL.

Conclusion

Our results highlight the importance of psychological support and screening of risk factors for anxiety and depression and low QoL in HBOC patients at the time of testing.

This is a preview of subscription content, access via your institution.

References

  1. 1.

    Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC, BRCA and BRCA Cohort Consortium (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317(23):2402–2416. https://doi.org/10.1001/jama.2017.7112

    CAS  Article  PubMed  Google Scholar 

  2. 2.

    Bercow AS, Eisenhauer EL (2019) Screening and surgical prophylaxis for hereditary cancer syndromes with high risk of endometrial and ovarian cancer. J Surg Oncol 120(5):864–872. https://doi.org/10.1002/jso.25645

    Article  PubMed  Google Scholar 

  3. 3.

    Telli ML, Gradishar WJ, Ward JH (2019) NCCN guidelines updates: breast cancer. J Natl Compr Cancer Netw 17(5.5):552–555. https://doi.org/10.6004/jnccn.2019.5006

    Article  Google Scholar 

  4. 4.

    Domchek SM, Christian FS, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t’veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein JS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975. https://doi.org/10.1001/jama.2010.1237

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  5. 5.

    Bober SL, Recklitis CJ, Bakan J, Garber JE, Patenaude AF (2015) Addressing sexual dysfunction after risk-reducing salpingo-oophorectomy: effects of a brief, psychosexual intervention. J Sex Med 12(1):189–197. https://doi.org/10.1111/jsm.12713

    Article  PubMed  Google Scholar 

  6. 6.

    Noguès C, Mouret-Fourme E (2012) Prophylactic surgery in common hereditary cancer syndromes. Bull Acad Natl Med 196(7):1237–1245

    PubMed  Google Scholar 

  7. 7.

    Brédart A, Kop JL, Depauw A, Caron O, Sultan S, Leblond D, Fajac A, Buecher B, Gauthier-Villars M, Noguès C, Flahault C, Stoppa-Lyonnet D, Dolbeault S (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):1012–1020. https://doi.org/10.1038/bjc.2012.599

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  8. 8.

    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. https://doi.org/10.1186/s13053-017-0077-6

    Article  PubMed  PubMed Central  Google Scholar 

  9. 9.

    Bylund CL, Fisher CL, Brashers D, Edgerson S, Glogowski EA, Boyar SR, Kemel Y, Spencer S, Kissane D (2012) Sources of uncertainty about daughters' breast cancer risk that emerge during genetic counseling consultations. J Genet Couns 21(2):292–304. https://doi.org/10.1007/s10897-011-9400-y

    Article  PubMed  Google Scholar 

  10. 10.

    Di Mattei VE, Carnelli L, Bernardi M, Bienati R, Brombin C, Cugnata F, Rabaiotti E, Zambetti M, Sarno L, Candiani M, Gentilini O (2018) Coping mechanisms, psychological distress, and quality of life prior to cancer genetic counseling. Front Psychol 9:1218. https://doi.org/10.3389/fpsyg.2018.01218

    Article  PubMed  PubMed Central  Google Scholar 

  11. 11.

    Di Mattei VE, Duchini E, Zucchi P, Patricelli MG, Rognone A, Di Pierro R, Zambetti M, Sarno L (2015) Consulenza genetica oncologica e qualità di vita: il ruolo delle strategie di coping e della sintomatologia psicopatologica nella fase pre-testale. Recenti Prog Med 106(8):380–384. https://doi.org/10.1701/1960.21304

    Article  PubMed  Google Scholar 

  12. 12.

    Listol W, Hoberg-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. https://doi.org/10.1186/s13053-016-0062-5)

    Article  PubMed  PubMed Central  Google Scholar 

  13. 13.

    Ringwald J, Wochnowski C, Bosse K, Giel KE, Schaffeler N, Zipfel S, Teufel M (2016) Psychological Distress, Anxiety, and Depression of Cancer-Affected BRCA1/2 Mutation carriers: a systematic review. J Genet Couns 25(5):880–891. https://doi.org/10.1007/s10897-016-9949-6

    Article  PubMed  Google Scholar 

  14. 14.

    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 Couns 19(2):148–160. https://doi.org/10.1007/s10897-009-9267-3

    Article  PubMed  Google Scholar 

  15. 15.

    Corines MJ, Hamilton JG, Glogowski E, Anrig CA, Goldberg R, Niehaus K, Salo-Mullen E, Harlan M, Sheehan MR, Trottier M, Ahsraf A, Tran C, Jacobs L, Rau-Murthy R, Lincoln AG, Robson ME, Guillem JG, Markowitz AJ, Offit K, Stadler ZK (2017) Educational and psychosocial support needs in Lynch syndrome: implementation and assessment of an educational workshop and support group. J Genet Couns 26(2):232–243. https://doi.org/10.1007/s10897-016-0015-1

    Article  PubMed  Google Scholar 

  16. 16.

    El-Husny A, Raiol-Moraes M, Amador M, Ribeiro-dos-Santos AM, Montagnini A, Barbosa S, Silva A, Assumpção P, Ishak G, Santos S, Pinto P, Cruz A, Ribeiro-dos-Santos A (2016) CDH1 mutations in gastric cancer patients from northern Brazil identified by next-generation sequencing (NGS). Genet Mol Biol 39(2):189–198. https://doi.org/10.1590/1678-4685-GMB-2014-0342

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  17. 17.

    Botega NJ, Bio MR, Zomignani MA, Garcia JRC, Pereira WAB (1995) Mood disorders among medical in-patients: a validation study of the hospital anxiety and depression scale (HAD). Rev Saúde Pública 29(5):355–363. https://doi.org/10.1590/S0034-89101995000500004

    CAS  Article  PubMed  Google Scholar 

  18. 18.

    Fleck MPA, Louzada S, Xavier M, Chachamovitch E, Vieira G, Santos L, Pinzon V (2000) Application of the Portuguese version of the abbreviated instrument of quality life WHOQOL-bref. Rev Saúde Pública 34(2):178–183. https://doi.org/10.1590/S0034-89102000000200012

    CAS  Article  PubMed  Google Scholar 

  19. 19.

    Mansano-Schlosser TC, Ceolim MF (2012) Quality of life of cancer patients during the chemotherapy period. Text Context Nursing 21(3):600–607. https://doi.org/10.1590/S0104-07072012000300015

  20. 20.

    Bennett P, Wilkinson C, Turner J, Cérebro K, Edwards RT, Griflith B, França B, Cinzento J (2008) Psychological factors associated with emotional responses to receiving genetic risk information. J Genet Couns 17(3):234–241. https://doi.org/10.1007/s10897-007-9136-x

    Article  PubMed  Google Scholar 

  21. 21.

    Cicero L, De Luca R, Dorangricchia P, Lo Coco L, 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. https://doi.org/10.1007/s10897-017-0072-0

    CAS  Article  PubMed  Google Scholar 

  22. 22.

    González-Ramírez LP, Martínez-Arraiga R, Camacho-Cárdenas E, Toro-Valero AD, Oceguerra-Villanueva A, Zagamé L, Silva-García AA, Daneri-Navarro A (2017) Evaluation of psychosocial aspects in participants of cancer genetic counseling. Hered Cancer Clin Pract 15:13. https://doi.org/10.1186/s13053-017-0073-x

    Article  PubMed  PubMed Central  Google Scholar 

  23. 23.

    Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen R, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang A, Esplin ED, Nussbaum RL (2019) Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol 37(6):453–460. https://doi.org/10.1200/JCO.18.01631

    Article  PubMed  Google Scholar 

  24. 24.

    Eijzenga W, Bleiker EMA, Hahn DEE, Van der Kolk LE, Sidharta GN, Aaronson NK (2015) Prevalence and detection of psychosocial problems in cancer genetic counseling. Familial Cancer 14(4):629–636. https://doi.org/10.1007/s10689-015-9809-9

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  25. 25.

    Dorval M, Patenaude AF, Schneider KA, Kieffer SA, DiGianni L, Kalkbrenner KJ, Bromber JI, Basili LA, Calzone K, Stopfer J, Weber BL, Garber JE (2000) Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. J Clin Oncol 18(10):2135–2142. https://doi.org/10.1200/JCO.2000.18.10.2135

    CAS  Article  PubMed  Google Scholar 

  26. 26.

    Bonadona V, Saltel P, Desseigne F, Mignotte H, Saurin JC, Wang Q, Sinilnikova O, GiraudS FG, 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 

  27. 27.

    Hirschberg AM, Chan-Smutko G, Pirl WF (2015) Psychiatric implications of cancer genetic testing. Cancer 121(3):341–360. https://doi.org/10.1002/cncr.28879

    Article  PubMed  Google Scholar 

  28. 28.

    Almeida TG, Comassetto I, Alves KMC, Santos AAP, Silva JMO, Trezza MCSF (2015) Experience of young women with breast cancer and mastectomized. Esc Anna Nery 19(3):432–438. https://doi.org/10.5935/1414-8145.20150057

  29. 29.

    Nicolussi AC, Sawada NO (2011) Quality of life of breast cancer patients on adjuvant therapy. Rev Gaúcha Enferm 32(4):759–766. https://doi.org/10.1590/S1983-14472011000400017

    Article  PubMed  Google Scholar 

  30. 30.

    Lotti RCB, Barra AA, Dias RC, Makluf ASD (2008) Breast cancer treatment and its impact on quality of life. Rev Bras Cancerol 54(4):367–371

    Google Scholar 

  31. 31.

    Liede A, Metcalfe K, Hanna D, Hoodfar E, Snyder C, Durham C, Lynch HT, Narod AS (2000) Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. Am J Hum Genet 67(6):1494–1504. https://doi.org/10.1086/316907

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  32. 32.

    Finch A, Metcalfe KA, Chiang JK, Elit L, McLaughlin J, Springate C, Demsky R, Murphy J, Rosen B, Narod SA (2011) The impact of prophylactic salpingo-oophorectomy on menopausal symptoms and sexual function in women who carry a BRCA mutation. Gynecol Oncol 121(1):163–168. https://doi.org/10.1016/j.ygyno.2010.12.326

    CAS  Article  PubMed  Google Scholar 

  33. 33.

    Tannock IF, Wit R, Berry WR, Horti J, Pluzanska A, Oudard S, Théodore C, James ND, Turesson I, Rosenthal MA, Eisenberg MA (2004) Docetaxel plus prednisone or mitoxantrone plus prednisone for advanced prostate cancer. N Engl J Med 351(1):1502–1512. https://doi.org/10.1056/NEJMoa040720

    CAS  Article  Google Scholar 

  34. 34.

    Eisenbraun J, Scheer R, Kröz M, Schad F, Huber R (2011) Quality of life in breast cancer patients during chemotherapy and concurrent therapy with a mistletoe extract. Phytomedicine 18(2-3):151–157. https://doi.org/10.1016/j.phymed.2010.06.013

    CAS  Article  PubMed  Google Scholar 

  35. 35.

    Fann JR, Thomas-Rich AM, Katon WJ, Cowley D, Pepping M, McGregor BA, Gralow J (2008) Major depression after breast cancer: a review of epidemiology and treatment. Gen Hosp Psychiatry 30(2):112–126. https://doi.org/10.1016/j.genhosppsych.2007.10.008

    Article  PubMed  Google Scholar 

  36. 36.

    Chintamani, Gogne A, Khandelwal R, Tandon M, Jain S, Kumar Y, Narayan N, Bamal R, Srinivas S, Saxena S (2011) The correlation of anxiety and depression levels with response to neoadjuvant chemotherapy in patients with breast cancer. JRSM Short Rep 2(3):15. https://doi.org/10.1258/shorts.2010.010072

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  37. 37.

    Kim S, Akpati HC, Li JG, Liu CR, Amdur RJ, Palta JR (2004) An immobilization system for claustrophobic patients in head-and-neck intensity-modulated radiation therapy. Int J Radiat Oncol Biol Phys 59(5):1531–1539. https://doi.org/10.1016/j.ijrobp.2004.01.025

    Article  PubMed  Google Scholar 

  38. 38.

    Snyder C (2016) Evolution of cancer risk assessment and counseling related to psychological, financial and legal implications. Familial Cancer 15(3):493–496. https://doi.org/10.1007/s10689-016-9890-8

    Article  PubMed  Google Scholar 

  39. 39.

    Bennet P, Phelps C, Hilgart K, Hood K, Brain K, Murray A (2011) Concerns and coping during cancer genetic risk assessment. Psychooncology 21(6):611–617. https://doi.org/10.1002/pon.1938

    Article  Google Scholar 

  40. 40.

    Negromonte MRO, Araujo TCCF (2011) Impact of the clinical management of pain: evaluation of stress and coping among health professionals. Rev Lat Am Enfermagem 19(2):238–244. https://doi.org/10.1590/s0104-11692011000200003

    Article  PubMed  Google Scholar 

  41. 41.

    Sant'Ana RO, Picanço-Albuquerque CG, Silva-Fernandes IJL, Silva PGB, Bezerra MJB, Luciano MCS, Lima MVA (2020) Prevalence of pathogenic non-BRCA 1/2 gene variants in patients with suspected hereditary breast and ovarian cancer at a referral hospital in northeastern Brazil. J Clin Oncol 38:e13602–e13602

    Article  Google Scholar 

Download references

Funding

Research Sponsor: Ministerio da Saude, Brazil (PRONON).

Author information

Affiliations

Authors

Contributions

Francisca Fernanda Barbosa Oliveira: Data collection, analysis, data interpretation, and writing of the manuscript

Paulo Goberlânio de Barros Silva: Statistical analysis, data interpretation, and manuscript writing

Rosane Oliveira de Sant’Ana: Review and translation into English of the manuscript

Clarissa Gondim Picanço de Albuquerque: Review of the manuscript

Maria Júlia Barbosa Bezerra: Review and translation into English of the manuscript

Deysi Viviana Tenazoa Wong: Review of the manuscript

Flávio da Silveira Bitencourt: Review and translation into English of the manuscript

Isabelle Joyce de Lima Silva-Fernandes: Writing and critical review of the manuscript

Marcos Venicio Alves Lima: Review of the manuscript

All authors approved the final version of the manuscript.

Corresponding author

Correspondence to Isabelle Joyce de Lima Silva-Fernandes.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Ethics approval

The study received approval from the Ethics and Research Committee No. 3,286,353, and all participants signed the free and informed consent form.

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

Verify currency and authenticity via CrossMark

Cite this article

Oliveira, F.F.B., de Barros Silva, P.G., de Sant’Ana, R.O. et al. How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial. Support Care Cancer 29, 3521–3530 (2021). https://doi.org/10.1007/s00520-020-05867-2

Download citation

Keywords

  • Anxiety
  • Breast cancer
  • Depression
  • Hereditary breast and ovarian carcinoma syndrome
  • Quality of life