Vivere con la mutazione genetica BRCA: implicazioni psicosociali e percezione del rischio di cancro

Journal title SALUTE E SOCIETÀ
Author/s Nadia Rania, Laura Migliorini
Publishing Year 2015 Issue 2015/2
Language Italian Pages 14 P. 100-113 File size 82 KB
DOI 10.3280/SES2015-002008
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Scientific advances and new technologies in the field of genetic urge the deepening of the psychological effects that individual and family genetic diagnosis necessarily entails. The increased perception of being at risk of getting cancer as a result of the BRCA genetic test results to define a particular emotional state related to lifestyle choices possible and to live with a perception of high risk of cancer. Many authors argue that will arise more and more frequently psychological issues related to genetic diagnosis. This work illustrates the state of the literature on the particular psychological condition experienced by the individual in relation to the risk of hereditary cancer. It will be considered the recent case of Angelina Jolie that making public its genetic diagnosis, has explained the psychological implications and decision she lived. Living with BRCA1/2 mutation is, in fact, a challenge for the individual and for society in facing the new diagnostic tools, together with the old fear of the disease and the possibility to counter it.

Keywords: Risk perception, genetic mutations BRCA1/2, psychological adjustment, bio-psycho-social, psycho-social implications, hereditary cancer

  1. Lazarus R.S., Folkman S. (1984). Stress, Appraisal, and Coping. New York: Springer Publishing Company
  2. Lerman C., Lustbader E., Rimer B., Daly M., Miller S., Sands C., Balshem A. (1995). Effects of individualized breast cancer risk counseling: a randomized trial. Journal of the National Cancer Institute, 87(4): 286-92. DOI: 10.1093/jnci/87.4.28
  3. Lerman C., Croyle R.T., Tercyak K.P., Hamann H. (2002). Genetic Testing: Psychological aspects and implications. Journal of Consulting and Clinical Psychology, 70(3): 784-797. DOI: 10.1037/0022-006X.70.3.78
  4. Mavaddat N., Peock S., Frost S., Ellis S., Platte R., Fineberg E., Evans V.D., Izatt L., Eeles R.A., Adlard J., Davidson R., Eccles D., Cole T., Cook J., Brewer C., Tischkowitz M., Douglas F., Hodgson S., Walker L., Porteous M.E., Morrison P.J., Side L.E., Kennedy M.J., Houghton C., Donaldson A., Rogers M.T., Dorkins H., Miedzybrodzka Z., Gregory H., Eason J., Barwell J., McCann E., Murray A., Antoniou A.C., Easton D.F. (2013). Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE. J Natl Cancer Inst, 105(11): 812-822. DOI: 10.1093/jnci/djt09
  5. McAllister M. (2001). Grounded Theory in Genetic Counseling Research. Journal of Genetic Counseling, 10(3): 233-250. DOI: 10.1023/a:101662840849
  6. McEwen A. (2011). “Getting on with it”: New Zealand Women’s Experiences of Living with an Increased Risk of Breast and Ovarian Cancer. A thesis submitted for the Degree of Doctor of Philosophy (PhD) at the University of Otago
  7. Mikkelsen E.M., Sunde L., Johansen C., Johnsen S.P. (2007). Risk perception among women receiving genetic counseling: A population-based follow-up study. Cancer Detection and Prevention, 31: 457-464. DOI: 10.1016/j.cdp.2007.10.01
  8. Murthy V.S., Garza M.A., Almario D.A., Vogel K.J., Grubs R.E., Gettig E.A., Wilson J.W., Thomas S.B. (2011). Using a family history intervention to improve cancer risk perception in a black community. Journal Genetic Counselling, 20: 639-649. DOI: 10.1007/s10897-0119389-
  9. Nowotny H., Testa G. (2012). Geni a nudo. Ripensare l’uomo nel XXI secolo, Torino: Codice Edizioni
  10. Omachonu V.K., Einspruch N.G. (2010). Innovation in Healthcare delivery systems: a conceptual framework. The Innovation Journal: The Pubblic sector Innovation Journal, 15(1): 1-20
  11. Ormondroyd E., Donnelly L., Moynihan C., Savona C., Bancroft E., Evans D.G., Eeles R.A., Lavery S., Watson M. (2012). Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis. European Journal of Human Genetics, 20(1): 4-10. DOI: 10.1038/ejhg.2011.14
  12. Palmonari A., Cavazza N. (2012). Ricerche e protagonisti della psicologia sociale. Bologna: il Mulino
  13. Patenaude A.F. (2010). Genetic Testing and Psychology. In: Patrinos G.P. e Ansorge W.J., a cura di, Molecular Diagnostics (549-562).
  14. Elsevier Ltd Patenaude A.F., Guttmacher A.E., Collins F.S. (2002). Genetic testing and psychology: new roles, new responsibilities. American Psychologist, 57: 271-282. DOI: 10.1037/0003-066X.57.4.27
  15. Aronowitz R.A. (2007). Unnatural History. Breast cancer and American society. New York: Cambridge University Press
  16. Bakos A.D., Hutson S.P., Loud J.T., Peters J.A., Giusti R.M., Greene M.H. (2008). BRCA mutation-negative women from hereditary breast and ovarian cancer families: a qualitative study of the BRCA-negative experience. Health Expect, 11(3): 220-231. DOI: 10.1111/j.1369-7625.2008.00494.
  17. Bowen D.J., Burke W., McTiernan A., Yasui Y., Andersen M.R. (2004). Breast cancer risk counseling improves women’s functioning. Patient Educ Couns, 53: 79-86. DOI: 10.1016/S0738-3991(03)00122-
  18. Pilarsky R. (2009). Risk perception among women at risk for hereditary breast and ovarian cancer. Journal Genetic Counselling, 18: 303-312. DOI: 10.1007/s10897-009-9227-
  19. Quinn G.P., Vadarampil S.T., Tollin S., Miree C.A., Murphy D., Bower B., Silva C. (2010). BRCA carriers’ thoughts on risk management in relation to preimplantation genetic diagnosis and childbearing: when too many choices are just as difficult as none. Fertility and sterility, 94(6): 2473-2475. DOI: 10.1016/j.fertnstert.2010.03.06
  20. Rania N., Migliorini L. (2015). “Naked genes” as health psychological innovation: a challenge for research and intervention. Procedia – Social and Behavioral Sciences, 165: 78-84. DOI: 10.1016/j.sbspro.2014.12.60
  21. Roberts A.R. (2000). Crisis intervention handbook. Assessment, treatment and research. Oxford: Oxford University Press
  22. Ryff C.D. (1989). Happiness Is Everything, or Is It? Explorations on the Meaning of Psychological Well-Being. Journal of Personality and Social Psychology, 57(6): 1069-1081. DOI: 10.1037//0022-3514.57.6.1069SavadoriL.,RumiatiR.(2005).Nuovirischi,vecchiepaure.Bologna:ilMulinoSeligmanM.E.P.,CsikszentmihalyiM.(2000).PositivePsychology:AnIntroduction.AmericanPsychologist,55(1):5-14.DOI:10.1037/0003-066X.55.1.
  23. Vazquez C., Hervas G., Rahona J.J., Gomez D. (2009) Psychological well-being and health. Contributions of positive psychology. Anuario de Psicologia Clinica de la Salud, Annuary of Clinical and Health Psychology, (5): 15-27
  24. Vernon S.W. (1999). Risk Perception and Risk Communication for Cancer Screening Behaviors: a Review. Journal of the National Cancer Institute Monographs, 25: 101-119. DOI: 10.1093/oxfordjournals.jncimonographs.a02418
  25. Wenzel L., Osann K., Lester J., Kurz R., Hsieh S., Nelson E.L., Karlan B. (2012) Biopsychological Stress Factors in BRCA Mutation Carriers. Psychosomatics, 53: 582-590. DOI: 10.1016/j.psym.2012.06.00
  26. Wevers M.R., Hahn D.E.E., Verhoef S., Bolhaar M.D.K., Ausems M.G.E.M, Aaronson N.K., Bleiker E.M.A. (2012). Breast cancer genetic counseling after diagnosis but before treatment: A pilot study on treatment consequences and psychological impact. Patient Education and Counseling, 89: 89-95. DOI: 10.1016/j.pec.2012.03.01
  27. Zani B., Cicognani E. (2000). Psicologia della salute. Bologna: il Mulino
  28. Zinn J. (2005). The biographical approach: A better way to understand behavior in health and illness. Health, Risk and Society, 7(1): 1-9. DOI: 10.1080/1369857050004234
  29. Zinn J. (2008). Heading into the unknown: Everyday strategies for managing risk and uncertainty. Health, Risk and Society, 10(5): 439-450. DOI: 10.1080/1369857080238089
  30. Zinzi P. (2004). Psicologia e medicina genetica Promuovere la salute secondo l’approccio centrato sulla persona. ACP – Rivista di Studi Rogersiani, 1-20
  31. Cipolletta S., Consolaro F., Horvath P. (2014). When health is an attitudinal matter. A qualitative research. Journal of Humanistic Psychology, 54(4): 391-413. DOI: 10.1177/002216781350763
  32. Konrad M. (2005). Narrating the New Predictive Genetics: Ethics, Ethnography and Science. Cambridge: Cambridge University Press
  33. Cull A., Anderson E.D., Campbell S., Mackay J., Smyth E., Steel M. (1999). The impact of genetic counselling about breast cancer risk on women’s risk perceptions and levels of distress. Br J Cancer, 79: 501-508. DOI: 10.1038/sj.bjc.669007
  34. d’Agincourt-Canning L. (2006). A gift or a yoke? Women’s and men’s responses to genetic risk information from BRCA1 and BRCA2 testing. Clin Genet, 70: 462-472. DOI: 10.1111/j.1399-0004.2006.00720.
  35. den Heijer M., Seynaeve C., Vanheusden K., Duivenvoorden H.J., Vos J., Bartels C.C.M., Menke-Pluymers M.B.E., Tibben A. (2011a). The contribution of self-esteem and self-concept in psychological distress in women at risk of hereditary breast cancer. Pycho-Oncology, 20: 1170-1175. DOI: 10.1002/pon.182
  36. den Heijer M., Seynaeve C., Vanheusden K., Duivenvoorden H.J., Bartels C.C.M., Menke-Pluymers M.B.E., Tibben A. (2011b). Psychological distress in women at risk for hereditary breast cancer: the role of family communication and perceived social support. Psycho-Oncology, 20: 1317-1323. DOI: 10.1002/pon.185
  37. DiMillo J., Samson A., Theriault A., Lowry L., Corsini L., Verma S., Tomiak E. (2012). Living with the BRCA genetic mutation: An uncertain conclusion to an unending process. Psychology, Health & Medicine, 1-10. DOI: 10.1080/13548506.2012.68782
  38. Duden B. (2006). I geni in testa e il feto nel grembo. Sguardo storico sul corpo delle donne. Torino: Bollati Boringhieri Engel G. (1977). The need for a new medical model: a challenge for biomedicine. Science, 196: 129-136. DOI: 10.1126/science.84746
  39. Esplen M.J., Stuckless N., Hunter J., Liede A., Metcalfe K., Glendon G., Narod S., Butler K., Scott J., Irwin E. (2009). The BRCA self-concept scale: A new instrument to measure self-concept in BRCA1/2 mutation carriers. Psycho-Oncology, 18: 1216-1229. DOI: 10.1002/pon.149
  40. Grubs R.E., Piantanida M. (2010). Grounded Theory in Genetic Counseling research: an interpretative perspective. Journal of Genetic Counseling, 19: 99-111. DOI: 10.1007/s10897-009-9270-
  41. Gurmankin A.D., Domchek S., Stopfer J., Fels C., Armstrong K. (2005). Patients’ resistance to risk information in genetic counseling for BRCA1/2. Arch Intern Med, 165: 523-529. DOI: 10.1001/archinte.165.5.52
  42. Hatcher M.B., Fallowfield L.J. (2003). A qualitative study looking at the psychosocial implications of bilateral prophylactic mastectomy. The Breast, 12: 1-9. DOI: 10.1016/S0960-9776(02)00135-
  43. Hopwood P., Howell A., Lalloo F., Evans G. (2003). Do women understand the odds? Risk perceptions and recall of risk information in women with a family history of breast cancer. Community Genet, 6: 214-23. DOI: 10.1159/00007938
  44. Hoskins L.M., Roy K.M., Greene M.H. (2012). Toward a New Understanding of Risk Perception Among Young Female BRCA1/2. “Previvors”. Families, Systems & Health, 30(1): 32-46. DOI: 10.1037/a002727
  45. Hoskins L.M., Roy K., Peters J.A., Loud J.T., Greene M.H. (2008). Disclosure of positive BRCA1/2 mutation status in young couples: the journey form uncertainty to bonding through partner support. Families, Systems & Health, 26(3): 296-316. DOI: 10.1037/a001291
  46. Kash K.M., Ortega-Verdejo K., Dabney M.K., Holland J.C., Miller D.G., Osborne M.P. (2000). Psychosocial aspects of cancer genetics: women at high
  47. risk for breast and ovarian cancer. Sem. Surg. Oncol., 18(4): 333-338. DOI: 10.1002/(sici)1098-2388(200006)18:4<333::aid-ssu8>3.0.co;2-
  48. Kelly K.M., Leventhal H., Andrydowski M., Toppmeyer D., Much J., Dermody J., Marvin M., Baran J., Schwalb M. (2005). Using the common sense model to understand perceived cancer risk in individuals testing for BRCA1/2 mutations. Psycho-Oncology, 14(1): 34-48. DOI: 10.1002/pon.80

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Nadia Rania, Laura Migliorini, Vivere con la mutazione genetica BRCA: implicazioni psicosociali e percezione del rischio di cancro in "SALUTE E SOCIETÀ" 2/2015, pp 100-113, DOI: 10.3280/SES2015-002008