Emotional Impact of breast cancerrelated genetic mutation diagnosis
a systematic review
Palabras clave:
Breast cancer, Emotional impact, Hereditary cancer, PsychologyResumen
Objective
Based on the premise that the diagnosis of a genetic mutation related to breast cancer causes emotional distress for the patient and their family members, a systematic literature review was conducted to clarify this relationship commonly observed in oncologic clinical practice.
Method
In total, 18 articles confirmed through bias analysis were reviewed. The articles were retrieved from the PubMed, Cochrane Wiley, SciELO, and APA-PsycInfo databases.
Results
These studies confirmed the hypothesis that a positive result in the genetic test triggers significant distress for both the patient and their family members, although each individual reacts in a unique way. The researchers recommend that the diagnosis should not be considered the sole factor for the studied outcome. It should be related to personal or family history of illness, previous experiences, and previous mental health.
Conclusion
We conclude, by a slight tendency, to include qualitative studies as a way to evaluate experiences in a more in-depth manner
Descargas
Citas
Bjørnslett, M., Dahl, A. A., Sørebø, Ø., & Dørum, A. (2015). Psychological distress related to BRCA testing in ovarian cancer patients. Familial Cancer, 14(4), 495-504. https://doi.org/10.1007/s10689-015-9811-2
Blomen, C. L., Pott, A., Volk, A. E., Budäus, L., & Witzel, I. (2021). Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design. Scientific Reports, 11(1), e20178. https://doi.org/10.1038/s41598-021-98737-8
Bray, F., Ferlay, J., Soerjomataram, I., Siegel, R. L., Torre, L. A., & Jemal, A. (2018). Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. Cancer Journal for Clinicians, 68(6), 394-424. https://doi.org/10.3322/caac.21492
Claes, E., Evers-Kiebooms, G., Denayer, L., Decruyenaere, M., Boogaerts, A., Philippe, K., & Legius, E. (2005). Predictive genetic testing for hereditary breast and ovarian cancer: Psychological distress and illness representations 1 year following disclosure. Journal of Genetic Counseling, 14(5), 349-363. https://doi.org/10.1007/s10897-005-1371-4
Croyle, R. T., Smith, K. R., Botkin, J. R., Baty, B., & Nash, J. (1997). Psychological responses to BRCA1 mutation testing: Preliminary findings. Health Psychology, 16(1), 63-72. https://doi.org/10.1037/0278-6133.16.1.63
Dean, M., & Davidson, L. G. (2018). Previvors’ uncertainty management strategies for hereditary breast and ovarian cancer. Health Communication, 33(2), 122-130. https://doi.org/10.1080/10410236.2016.1250187
Feng, Y., Spezia, M., Huang, S., Yuan C., Zeng Z., Zhang, L., Ji X., Liu W., Huang ,B., Luo, W., Liu, B.,Lei, Y., Du, S., Vuppalapati, A., Hue, H., Haydon, R. C., He, T-C., & Ren, G. (2018). Science direct breast cancer development and progression: Risk factors, cancer stem cells, signaling pathways, genomics, and molecular pathogenesis. Genes & Diseases, 5(2), 77-106. https://doi.org/10.1016/j.gendis.2018.05.001
Ferlay, J., Soerjomataram, I., Dikshit, R., Eser, S., Mathers, C., Rebelo, M., Parkin, D. M., Forman, D., & Bray, F. (2014). Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012. International Journal of Cancer, 136(5), E359-E386. https://doi.org/10.1002/ijc.29210
Gonzalez, B. D., Hoogland, A. I., Kasting, M. L., Cragun, D., Kim, J., Ashing, K., Holt, C. L., Hughes Halbert, C., Pal, T., & Vadaparampil, S. T. (2018). Psychosocial impact of BRCA testing in young Black breast cancer survivors. Psycho-Oncology, 27(12), 2778-2785. https://doi.org/10.1002/pon.4887
Instituto Nacional de Câncer. (2022 Jun 4). Câncer de mama: o câncer de mama é caracterizado pelo crescimento de células cancerígenas. Inca. https://www.inca.gov.br/tipos-de-cancer/cancer-de-mama
James, J. E., Riddle, L., Caruncho, M., Koenig, B. A., & Joseph, G. (2022). A qualitative study of unaffected ATM and CHEK2 carriers: How participants make meaning of “moderate risk” genetic results in a population breast cancer screening trial. Journal of Genetic Counseling, 31(6), 1421-1433. https://doi.org/10.1002/jgc4.1617
Koehly, L. M., Peters, J. A., Kuhn, N., Hoskins, L., Letocha, A., Kenen, R., Loud, J., & Greene, M. H. (2008). Sisters in hereditary breast and ovarian cancer families: Communal coping, social integration, and psychological well-being. Psycho-Oncology, 17(8), 812-821. https://doi.org/10.1002/pon.1373
Li, Y., Arellano, A. R., Bare, L. A., Bender, R. A., Strom, C. M., & Devlin, J. J. (2017). A Multigene test could costeffectively help extend life expectancy for women at risk of hereditary breast cancer. Value in Health, 20(4), 547-555. https://doi.org/10.1016/j.jval.2017.01.006
Lim, G.-H., Borje, E., & Allen J. C., Jr. (2017). Evaluating the performance of National Comprehensive Cancer
Network (NCCN) breast and ovarian genetic/familial high risk assessment referral criteria for breast cancer women in an Asian surgical breast clinic. Gland Surgery, 6(1), 35-42. https://doi.org/10.21037/gs.2016.11.05
Manne, S., Audrain, J., Schwartz, M., Main, D., Finch, C., & Lerman, C. (2004). Associations between relationship support and psychological reactions of participants and partners to BRCA1 and BRCA2 testing in a clinic-based sample. Annals of Behavioral Medicine, 28(3), 211-225. https://doi.org/10.1207/s15324796abm2803_10
Mays, D., DeMarco, T. A., Luta, G., Peshkin, B. N., Patenaude, A. F., Schneider, K. A., Garber, J. E., & Tercyak, K. P. (2014). Distress and the parenting dynamic among BRCA1/2 tested mothers and their partners. Health Psychology, 33(8), 765-773. https://doi.org/10.1037/a0033418
McInerney-Leo, A., Biesecker, B. B., Hadley, D. W., Kase, R. G., Giambarresi, T. R., Johnson, E., Lerman, C., & Struewing, J. P. (2004). BRCA1/2 testing in hereditary breast and ovarian cancer families: Effectiveness of problem-solving training as a counseling intervention. American Journal of Medical Genetics, 130A(3), 221-227. https://doi.org/10.1002/ajmg.a.30265
Page, M. J., McKenzie, J. E., Bossuyt, P. M., Boutron, I., Hoffmann, T. C., Mulrow, C. D., Shamseer, L., Tetzlaff, J. M., Akl, E. A., Brennan, S. E., Chou, R., Chanville, J., Griamshaw, J. M., Hróbjartsson, A., Lalu, M. M., Li, T., Loder, E. W., Mayo-Wilson, E., McDonald, S., ... Stewart, L. A. (2021). The PRISMA 2020 statement: na updated guideline for reporting systematic reviews. BMJ, 372(71), 1-9. http://dx.doi.org/10.1136/bmj.n71
Page M. J., Moher, D., Bossuyt, P. M., Boutron. I., Hoffmann, T. C., Mulrow, C. D., Shamseer, L., Tetzlaff, J. M., Akl, E. A., Brennan, S. E., Chou, R., Chanville, J., Griamshaw, J. M., Hróbjartsson, A., Lalu, M. M., Li, T., Loder, E. W., Mayo-Wilson, E., McDonald, S., ... Stewart, L. A. (2021). PRISMA 2020 explanation and elaboration: updated guidance and exemplars for reporting systematic reviews. BMJ, 372(160), 1-36. http://dx.doi.org/10.1136/bmj.n160
Parkes, A., Arun, B. K., & Litton, J. K. (2017). Systemic Treatment Strategies for Patients with Hereditary Breast Cancer Syndromes. The Oncologist, 22(6), 655-666. https://doi.org/10.1634/theoncologist.2016-0430
Pellini, F., Mirandola, S., Granuzzo, E., Urbani, S., Piccinni Leopardi, G., & Pollini, G. P. (2020). Italian men tested for BRCA1/2 mutation: Psychological distress during 6-month follow-up. Journal of Oncology, 2020, 1–5. https://doi.org/10.1155/2020/3987935
Samama, D., Hasson-Ohayon, I., Perry, S., Morag, O., & Goldzweig, G. (2013). Preliminary report of the relationship between experience of death of a relative, illness perception, and psychological outcome among BRCA carriers. Psychology, Health & Medicine, 19(6), 698-704. https://doi.org/10.1080/13548506.2013.861600
Schlich-Bakker, K. J., ten Kroode, H. F. J., Wárlám Rodenhuis, C. C., Ausems, M. G. E. M., & van den Bout, J. (2009). Distress in couples approached for genetic counseling and BRCA1/2testing during adjuvant radiotherapy. Psycho-Oncology, 18(9), 965-973. https://doi.org/10.1002/pon.1446
Smith, A. W., Dougall, A. L., Posluszny, D. M., Somers, T. J., Rubinstein, W. S., & Baum, A. (2008). Psychological distress and quality of life associated with genetic testing for breast cancer risk. Psycho-Oncology, 17(8), 767-773. https://doi.org/10.1002/pon.1291
Sung, H., Ferlay, J. L., Siege, R., Laversanne, M., Soerjomataram, I., Jemal, A., & Bray, F. (2021). Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. Cancer Journal for Clinicians, 71(3), 209-249. https://doi.org/10.3322/caac.21660
Tercyak, K. P., Hughes, C., Main, D., Snyder, C., Lynch, J. F., Lynch, H. T., & Lerman, C. (2001). Parental communication of BRCA1/2 genetic test results to children. Patient Education and Counseling, 42(3), 213-224. https://doi.org/10.1016/s0738-3991(00)00122-1
Tercyak, K. P., Lerman, C., Peshkin, B. N., Hughes, C., Main, D., Isaacs, C., & Schwartz, M. D. (2001). Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counseling and testing for breast and ovarian cancer risk. Health Psychology, 20(3), 217-222. https://doi.org/10.1037/0278-6133.20.3.217
Van Oostrom, I., Meijers-Heijboer, H., Duivenvoorden, H. J., Bröcker-Vriends, A. H. J. T., van Asperen, C. J., Sijmons, R. H., Seynaeve, C., Van Gool, A. R., Klijn, J. G. M., & Tibben, A. (2006). Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing. Annals of Oncology, 17(7), 1090-1095. https://doi.org/10.1093/annonc/mdl069
Voorwinden, J. S., & Jaspers, J. P. C. (2015). Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer. Journal of Genetic Counseling, 25(3), 495-503. https://doi.org/10.1007/s10897-015-9894-9
Descargas
Publicado
Cómo citar
Número
Sección
Licencia
Derechos de autor 2025 Carolina Del Negro Visintin, Letícia Jóia Ribeiro, Stephanie Aragão Lusoli Vicensotti, Tânia Mara Marques Granato

Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.







